Breed Associated - Disease Information

Breed

Airedale Terrier

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Alaskan Malamute

Alaskan Malamute polyneuropathy is a progressive, inherited, neuromuscular disease affecting Alaskan Malamutes. Affected dogs typically present between 3 and 19 months of age with a combination of voice changes, noisy (high-pitched) breathing sounds, exercise intolerance and/or loss of hind limb muscle coordination. Progression of disease results in significant muscle atrophy of limbs and spinal musculature, hind limb weakness, a “bunny hopping” gait, and, in some cases, weakness in all four limbs resulting in an inability to walk. While some dogs appear to partially recover and live relatively normal lives, other dogs are euthanized due to the severity of the disease.

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Cone degeneration is an inherited eye disease affecting dogs. Affected dogs develop day blindness (blindness in bright light) and photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Alaskan Sled Dog

Cone degeneration is an inherited eye disease affecting dogs. Affected dogs develop day blindness (blindness in bright light) and photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

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American Eskimo Dog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Thrombopathia (American Eskimo Dog type) is an inherited bleeding disorder affecting American Eskimo Dogs. Affected dogs have abnormal platelet function. In Thrombopathia (American Eskimo Dog type), platelets are unable to stick properly to one another and therefore cannot clot normally. The risk for excessive and spontaneous bleeding can range from mild to severe. The most common symptoms in affected dogs are recurrent nose bleeds and excessive bleeding of the gums when a dog sheds its teeth or chews on hard objects. Affected dogs can also bruise easily and get blood filled masses (hematomas) under their skin and within muscles with mild trauma. They may have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. Although dogs with this disorder are at risk for spontaneous hemorrhage and internal bleeding, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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Anatolian Shepherd Dog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Australian Cattle Dog

Cystinuria (Australian Cattle Dog type) is an inherited disease affecting kidney function dogs. The SLC3A1 gene codes for a protein that allows the kidneys to transport cysteine and other amino acids from the urine. Normal kidneys reabsorb the amino acid cystine so that only small amounts pass into the urine, while dogs with mutations of both copies of the SLC3A1 gene fail to reabsorb cystine allowing large amounts to pass into the urine, hence the name cystinuria. Cystine can form crystals and/or stones in the urinary tract which can block the ureters or urethra and stop the normal flow of urine. Symptoms of disease include straining to urinate, frequent urination of small volumes or inability to urinate. In dogs, males and females are equally affected with excess cysteine in the urine, but obstruction of urine flow is more common in males due to differences in anatomy. Similar to other dominant diseases, affected dogs have variable onset and severity of clinical signs depending on the number of inherited copies of the cystinuria associated mutation. Dogs inheriting two copies of the mutation (one from each parent) have a higher concentration of cysteine in their urine than dogs with only one copy and tend to develop symptoms associated with cystinuria earlier. Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure and even death.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Myotonia congenita is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity. Signs of the disorder usually present when puppies begin to walk. Their gait may appear stiff and uncoordinated and they may fall frequently. Affected dogs frequently have a “bunny hop” type gait. Episodes do not appear to be painful and the muscle stiffness may improve with increased exercise. Episodes can worsen with hot weather and excitement. Other features include enlargement of the muscles, especially of the neck and limbs, abnormal posture, and an upper jaw that is much longer than the lower jaw. Dogs with this disorder typically have a normal lifespan.

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Neuronal ceroid lipofuscinosis 5 (NCL5) is a lysosomal storage disease affecting Border Collies. Affected dogs lack adequate activity of a specific enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present between 15 and 20 months of age with behavioral changes. Symptoms initially include non-responsiveness to commands, loss of interest in play or other dogs, irrational fears, hallucinations, disorientation and aggression. Symptoms become more frequent and severe over time and may include ataxia, falling, seizures, aimless wandering, abnormal gait, lethargy and vision loss. Dogs with this disease rarely live beyond 32 months of age.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Australian Kelpie

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Australian Shepherd

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Cone degeneration is an inherited eye disease affecting dogs. Affected dogs develop day blindness (blindness in bright light) and photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hereditary cataracts (Australian Shepherd type) is an inherited eye disease affecting dogs. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with Hereditary cataracts (Australian Shepherd type) most commonly present between 2 to 7 years of age with small cataracts that are visible on a veterinary eye exam. In dogs that inherit one copy of the mutation, cataracts develop slowly, sometimes leading to complete blindness. However, it has been speculated that dogs carrying two copies of the mutation are more likely to develop a more rapidly progressing and severe cataract. Of note, not all forms of cataracts are inherited and environmental factors such as UV damage can also play a role in the severity of disease. This specific mutation in the HSF4 gene shows incomplete penetrance, meaning that not all dogs inheriting two copies of the mutation develop clinical disease. This suggests that other unknown genetic or environmental factors may play a role in modifying disease development and progression.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Intestinal cobalamin malabsorption (Australian shepherd type) is an inherited disease affecting Australian shepherds. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) after weaning, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Neuronal ceroid lipofuscinosis 6 (NCL6) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs present around 1.5 years of age with progressive neurologic disease. Symptoms include loss of vision, behavioral change, anxiety, lack of muscle coordination and abnormal gait. Affected dogs are often humanely euthanized by 2 years of age due to progression of the disease.

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Neuronal ceroid lipofuscinosis 8 (Australian shepherd and Australian cattle dog type) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system. Affected dogs typically present around 8 to 12 months of age with changes in behavior including increased sensitivity to sounds and a loss of learned behaviors such as housetraining and responsiveness to commands. With time, affected dogs will display various signs of progressive neurological disease including mental dullness, weakness, compulsive movements, anxiety, aggression, loss of balance, blindness, seizures and death. Death or euthanasia usually occurs by 2 years of age.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Australian Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Barbet

Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Basenji

Fanconi syndrome is an inherited disorder of the kidneys affecting dogs. Affected dogs typically present with clinical signs of abnormal kidney function in adulthood with an average age of onset between four and eight years of age. Normally the kidneys reabsorb most of the nutrients and electrolytes that they filter from the blood. The kidneys of affected dogs do not properly reabsorb nutrients and electrolytes, such as glucose, protein, phosphate, potassium and sodium, and abnormally lose these nutrients in the urine. Symptoms of abnormal kidney function in affected dogs most commonly include increased urination and excessive drinking. Less often dogs may have weight loss despite a normal appetite, weakness, urinary incontinence and poor hair coat. A common characteristic of this disease is glucose in the urine with normal blood glucose levels. Fanconi syndrome is treatable but not curable. If an affected dog is not treated, the disease can progress to chronic kidney failure and overall poor health. Appropriate treatment can preserve the health and quality of life of affected dogs. The median survival time after diagnosis is five years with most dogs dying around 12 years of age. This late age of onset allows for most dogs to be bred before diagnosis and subsequently, the disease is passed to offspring.

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Progressive retinal atrophy (Basenji type) is an adult-onset inherited eye disease affecting Basenjis. Affected dogs initially have changes in reflectivity and appearance of a structure behind the retina called the tapetum that is typically observed on a veterinary eye exam at around 5 years of age. Progression of the disease leads to thinning of the retinal blood vessels by 6 or 7 years of age, signifying decreased blood flow to the retina. Initial symptoms of disease in affected dogs include vision loss in dim light (night blindness) and loss of peripheral vision. The disease follows a variable progression and severity depending on the individual, but in many cases progresses to complete vision loss. Some affected dogs maintain vision in daylight for many years, sometimes for the remainder of their life.

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Pyruvate kinase deficiency (Basenji type) is an inherited metabolic disease affecting Basenjis. Affected dogs have insufficient activity of the pyruvate kinase enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 2 year of age with pale gums from decreased numbers of red blood cells (anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 5 years of age.

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Spinocerebellar ataxia is an early onset, inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching get worse with age and dogs are at risk of overheating. Affected dogs can also experience true epileptic seizures. Dogs with spinocerebellar ataxia are usually euthanized by 2 years of age due to a poor quality of life.

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Basset Hound

X-linked severe combined immunodeficiency (group A) is an inherited disease affecting Basset Hounds. Affected dogs are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease around 6 to 8 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected dogs die within 4 months of age.

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Thrombopathia (Basset Hound type) is an inherited bleeding disorder affecting Basset Hounds. Affected dogs have abnormal platelet function. Platelets are blood cells that are responsible for the normal clotting of blood. In Thrombopathia (Basset Hound type), platelets are unable to stick properly to one another and therefore cannot clot normally. The risk for excessive and spontaneous bleeding can range from mild to severe. The most common symptoms in affected dogs are recurrent nose bleeds and excessive bleeding of the gums when a dog sheds its teeth or chews on hard objects. Affected dogs also bruise easily and get blood filled masses (hematomas) under their skin especially at the tips of the ears. They may have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. Although dogs with this disorder are at risk for spontaneous hemorrhage and internal bleeding, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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Beagle

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Intestinal cobalamin malabsorption (beagle type) is an inherited disease affecting dogs. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs present as early as 8 to 12 weeks of age with clinical signs including anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, seizures, coma and death. Affected dogs have an increased methylmalonic acid concentration in the urine (a sign of cobalamin deficiency) as well as an increase in certain urine proteins. In addition, affected dogs frequently display anemia, decreased numbers of neutrophils, and have been reported to develop degenerative liver disease and free fluid in the abdomen. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with medical problems, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

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Musladin-Lueke syndrome (MLS) is an inherited disorder affecting dogs. Dogs with this disorder have increased amounts of connective tissue in the skin and joints. Clinical signs are usually noted at birth and include stiff, sometimes contracted joints that cause dogs to walk upright and often on their tip-toes, giving them a “ballerina walk”. Affected dogs are smaller than littermates with creased ears and thick, tight skin. Other features of this disorder include short outer toes, broad flat foreheads with wide-set slanted eyes and high-set ears. Dogs may also exhibit a failure to thrive, have seizures or experience “phantom pains”. Symptoms continue to progress until dogs are about 1 year of age at which time they appear to stabilize. Dogs with this disorder typically have a normal life span, but commonly develop arthritis.

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Neonatal cerebellar cortical degeneration is an early onset, inherited disease affecting Beagles. Symptoms present around 3 weeks of age when puppies normally develop coordinated movement. In affected dogs there is deterioration of cells in the cerebellum leading to clinical signs associated with uncoordinated movement and poor balance. Dogs have difficulty walking and often fall over. Other symptoms include jerky movements of the feet and head, staggering, crossing of legs, and a wide-based stance. Tremors of the head and legs are often present and become more severe when the dog is trying to complete a task such as eating. While the disease progression appears to be slow, puppies will not recover and are often euthanized.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected animals are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Affected puppies may die shortly after birth and be smaller than littermates. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Primary open angle glaucoma is an inherited condition of the eye affecting Beagles. Affected dogs typically develop increased eye pressure in both eyes between 8 to 16 months of age. As the pressure in the eye increases, the eyeball increases in size and is painful. Signs of pain in the eye include excessive blinking, tearing and redness. If left untreated, the increased pressure in the eye leads to optic nerve damage and the gradual loss of vision. Most dogs exhibit luxation of the lens of the eye by 2.5 years of age. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation will exasperate the glaucoma and vision loss. Other symptoms may include bulging eyes and cataracts.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Pyruvate kinase deficiency (Beagle type) is an inherited metabolic disease affecting beagles. Affected dogs have insufficient activity of the pyruvate kinase enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 2 year of age with pale gums from decreased numbers of red blood cells (anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 9 years of age.

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Bearded Collie

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Belgian Sheepdog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Belgian Shepherd

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Belgian Tervuren

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Bernese Mountain Dog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Bichon Frise

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Black Russian Terrier

Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Warburg micro syndrome is an inherited developmental disease affecting dogs. Affected dogs are identified early in life with a wide variety of clinical signs including underdeveloped eyes, cataracts and abnormal membranes in the eyes, which often obstruct the pupils of the eyes (persistent pupillary membranes). In addition, affected dogs may develop generalized neurologic dysfunction and often develop paralysis of the larynx resulting in excessive breathing sounds and an abnormal bark.

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Bloodhound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Border Collie

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Intestinal cobalamin malabsorption (Border Collie type) is an inherited disease affecting dogs. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Myotonia congenita is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity. Signs of the disorder usually present when puppies begin to walk. Their gait may appear stiff and uncoordinated and they may fall frequently. Affected dogs frequently have a “bunny hop” type gait. Episodes do not appear to be painful and the muscle stiffness may improve with increased exercise. Episodes can worsen with hot weather and excitement. Other features include enlargement of the muscles, especially of the neck and limbs, abnormal posture, and an upper jaw that is much longer than the lower jaw. Dogs with this disorder typically have a normal lifespan.

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Neuronal ceroid lipofuscinosis 5 (NCL5) is a lysosomal storage disease affecting Border Collies. Affected dogs lack adequate activity of a specific enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present between 15 and 20 months of age with behavioral changes. Symptoms initially include non-responsiveness to commands, loss of interest in play or other dogs, irrational fears, hallucinations, disorientation and aggression. Symptoms become more frequent and severe over time and may include ataxia, falling, seizures, aimless wandering, abnormal gait, lethargy and vision loss. Dogs with this disease rarely live beyond 32 months of age.

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Sensory neuropathy is a progressive neurological disease affecting Border collies. Affected dogs present between two and seven months of age with clinical signs including Ataxia, abnormal gait, muscle Atrophy, knuckling of the paws, and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Affected dogs lose feeling in all limbs and develop an inability to recognize the position of their limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are often euthanized within 18 months of diagnosis due to quality of life concerns.

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Trapped neutrophil syndrome is an inherited disease affecting Border Collies. This disease affects the immune system and its ability to fight infection. Affected dogs most commonly present between the ages of 6-12 weeks with signs of immune dysfunction. Symptoms of the disease are dependent on the specific infection that the dog is fighting and may include failure to thrive, poor growth, weight loss, lethargy, diarrhea and vomiting. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected puppies are often smaller than normal littermates and can have a narrow, elongated, ferret-like head. Occasionally affected dogs can be mildly affected and not show signs of disease until 1 to 2 years of disease, but typically affected dogs die from an infection by four months of age.

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Border Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Borzoi

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Boston Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hereditary cataracts is an inherited eye disease in dogs. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with Hereditary cataracts most commonly present within a few weeks to months after birth with small cataracts that are visible on a veterinary eye exam. Cataracts from this disease will eventually affect the whole lens in both eyes leading to complete blindness between 2-3 years of age. Of note, not all forms of cataracts are inherited and environmental factors such as UV damage can also play a role in the severity of disease.

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Bouvier des Flandres

Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Boxer

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hemophilia A (boxer type) is an inherited bleeding disorder affecting dogs. Hemophilia A (boxer type) is caused by a deficiency of coagulation factor VIII, which is an essential protein needed for normal blood clotting. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Dogs may show signs of lameness or stiffness if bleeding occurs in the joints or muscle. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions.

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Briard

Congenital stationary night blindness (CSNB) is a rare inherited eye disease affecting dogs. CSNB causes slowly progressive degeneration of the retina, which is the part of the eye that collects visual information and communicates with the brain. Loss of night vision is first noticed in affected dogs as early as 5 weeks of age, while ophthalmologic changes are not visible until affected dogs are 2-3 years of age. Light brown patches form on the surface of the retina. These patches increase in size and coalesce over time until the entire retina is affected. Affected dogs may be reluctant to move in low light and over time, day vision is also lost.

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Brittany

Complement 3 deficiency is a disorder of the immune system affecting the Brittany that is characterized by a lack of the protein complement component 3. Complement component 3 (C3) plays an important role in preventing bacterial infection. C3 deficiency most commonly affects younger dogs and affected dogs will present with reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease early in life which can lead to chronic kidney failure and death.

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Bull Terrier

Neuronal ceroid lipofuscinosis 4A (NCL4A) is an adult-onset, lysosomal storage disease affecting dogs. NCL4A is caused by deficiency in the activity of the enzyme arylsulfatase G (ARSG), which is necessary to break down certain proteins in the cells. As a result there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present between 3 to 5 years of age with slowly progressive neurologic disease. Symptoms include a lack of muscle coordination, tremors, abnormal eye movement, abnormal gait and difficulty in balancing and jumping. Dogs are often euthanized 2 to 4 years after initial disease symptoms when they can no longer walk. Rarely affected dogs can live a normal lifespan with mild symptoms.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Bulldog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Bullmastiff

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Progressive retinal atrophy (Bullmastiff/Mastiff type) is an inherited eye disease affecting Bull Mastiffs and Mastiffs. Progressive retinal atrophy (Bullmastiff/Mastiff type) occurs as a result of degeneration of rod type photoreceptor cells of the retina, important for vision in dim light. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Affected dogs initially present by 18 months of age with vision loss in dim light (night blindness) and loss of peripheral vision. The visual deficits gradually progress to complete vision loss. Dogs that inherit two RHO mutations have a more rapid disease progression than dogs that have only inherited one mutation. The disease follows a variable progression and severity depending on the individual, but complete degeneration of the retina can take years.

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Cairn Terrier

Gallbladder mucoceles are an inherited disorder of the liver affecting dogs. A mucocele is a gallbladder that is severely distended by mucus. It can result in inflammation (cholecystitis) and possible rupture of the gallbladder. Affected dogs usually present with vomiting, jaundice, loss of appetite and abdominal pain. If the gallbladder is not removed before rupture, the dog will become very painful and die. Though it is known that dogs inheriting one copy of the causal mutation are at increased risk for this disease, the presentation of gallbladder mucoceles is variable between dogs and not all dogs inheriting a copy of the mutation will develop the disease. This suggests that there are environmental or other genetic factors responsible for modifying disease expression. Because gallbladder mucoceles have symptoms that are common to other diseases, it can be difficult to diagnosis without ultrasonography or surgery.

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Globoid cell leukodystrophy is an inherited lysosomal storage disorder affecting dogs. Affected dogs are normal at birth but at about 6 to 22 weeks of age, these dogs show signs of muscle weakness and uncoordinated movement. Affected dogs have a deficiency of the enzyme galactocerebrosidase which is responsible for breaking down myelin in the nervous system. As a result, there are abnormal accumulations of fatty myelin bi-products that affect the ability of certain nervous cells to make myelin. Symptoms include crossing legs while walking, widely spaced stance, jerky movements, high stepping and body tremors. Overall muscle tone is decreased and reflexes are decreased or absent. As the disease progresses, blindness, paralysis and death can occur.

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Hemophilia B is an inherited bleeding disorder affecting dogs. Hemophilia B is caused by a deficiency of coagulation factor IX, an essential protein needed for normal blood clotting. There is variation between breeds in the severity of the bleeding tendency with this disease. More severely affected dogs bruise easily and often get blood filled masses (hematomas) under their skin and within muscles with mild trauma. They can also have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. A mildly affected dog may present with easy and excessive bruising and frequent nosebleeds. There is significant risk for prolonged bleeding after surgery or trauma, and in some cases, the bleeding may be severe enough to cause death. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Pyruvate kinase deficiency (Terrier type) is an inhered metabolic disease affecting dogs. Affected dogs have insufficient activity of the pyruvate kinase enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 1 year of age with pale gums from decreased numbers of red blood cells (anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 5 years of age.

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Canaan Dog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Cane Corso

Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Cardigan Welsh Corgie

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Progressive retinal atrophy, Rod-cone dysplasia 3 is an inherited eye disease affecting dogs. Progressive retinal atrophy, Rod-cone dysplasia 3 occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 4 weeks of age. Signs of progressive retinal atrophy including changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam by 6 to 16 weeks of age. Rod photoreceptor cells degenerate first resulting in loss of peripheral vision and night vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Most affected dogs are completely blind by 1 year of age, but some may retain limited sight until 3 to 4 years of age.

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X-linked severe combined immunodeficiency (group B) is an inherited disease affecting dogs. Affected dogs are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease around 6 to 8 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected dogs die within 4 months of age.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Cavalier King Charles Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Dry eye curly coat syndrome is an inherited disease that affects the eyes, skin, and feet of dogs. Affected dogs are usually diagnosed between 2-10 weeks of age with keratoconjuncitivits sicca and ichthyosiform dermatosis. Keratoconjunctivitis sicca, commonly called “dry eye”, is the result of abnormal tear production. Affected dogs often have mucoid, green discharge around their eyes and can develop severe corneal ulcers. Ichthyosiform dermatosis in affected Cavalier King Charles Spaniels is characterized by frizzy sparse hair, dry flakey skin, thickened foot pads, and malformed nails. The skin on the footpads and nails can slough and make standing and walking painful for affected dogs. Affected dogs are also predisposed to dental disease.

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Episodic falling syndrome (EFS) is an inherited condition affecting dogs. Episodes usually begin between 14 weeks and 4 years of age and are often associated with exercise, excitement or frustration. However, these episodes can occur at any time or under any circumstance. EFS is a disorder of the muscles that causes increased muscle tone and muscle spasticity (especially those of the limbs) resulting in limbs that appear “locked” in an extended position. This muscle spasticity results in a characteristic “praying” position and/or collapse. Episodes are usually a few seconds to several minutes in length and resolve on their own. Affected dogs appear neurologically normal between episodes. The severity and number of episodes vary over the course of the dog’s life and do not follow a specific progression pattern.

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Chesapeake Bay Retriever

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Ectodermal dysplasia is an inherited disease in dogs. Affected dogs are unable to produce a protein important for the tight adherence of skin cells to one another. Affected dogs show signs of disease at birth including fragile, pale skin that appears translucent on the ears, feet, nose, and mouth. This skin easily sloughs off when rubbed dry or licked by the dam. Affected dogs often die within hours or days of birth. Puppies that survive the neonatal period will continue to experience skin sloughing on the ears, footpads, sites of friction (e.g. armpits and groin), and at junctions of mucous membranes and skin, such as around the mouth, nose, and eyes. Affected dogs often have irregularly thickened footpads and small, malformed claws. By 3 months of age, affected dogs are often visibly smaller than littermates and have a sparse hair coat with areas of alopecia. Puppies surviving the neonatal period are often euthanized at a young age due to poor quality of life.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Chihuahua

Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Spinocerebellar ataxia is an early onset, inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching get worse with age and dogs are at risk of overheating. Affected dogs can also experience true epileptic seizures. Dogs with spinocerebellar ataxia are usually euthanized by 2 years of age due to a poor quality of life.

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Chinese Crested

Canine multiple system degeneration (Chinese Crested type) is a progressive inherited neurological disease affecting Chinese Crested dogs. Affected dogs present at 3 to 6 months of age with tremors, abnormal gait and poor balance. Dogs gradually progress to severe gait abnormalities, balance issues, frequent falling, abnormal body posture, abnormal eye movement and eventually are unable to move. Dogs continue to show normal mental awareness and social behavior despite movement disturbances. Most dogs die due to disease complications or are humanely euthanized by 2 years of age.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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The Hr Locus (Hairless) impacts the presence or absence of a coat on certain breeds of dog. A DNA variant in the FOXI3 gene, an important gene during early embryonic development, disrupts the normal development of hair and teeth in the dog which can result in sparse or absent hair as well as missing or abnormally shaped teeth.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Progressive retinal atrophy, Rod-cone dysplasia 3 is an inherited eye disease affecting dogs. Progressive retinal atrophy, Rod-cone dysplasia 3 occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 4 weeks of age. Signs of progressive retinal atrophy including changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam by 6 to 16 weeks of age. Rod photoreceptor cells degenerate first resulting in loss of peripheral vision and night vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Most affected dogs are completely blind by 1 year of age, but some may retain limited sight until 3 to 4 years of age.

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Chow Chow

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Canine elliptocytosis is a rare inherited blood disorder. Normal red blood cells are round in shape but red blood cells in affected dogs appear oval-shaped and can have serrated edges. An affected dog may present with mild anemia and may be smaller than its littermates. Severe health complications have not been reported in affected dogs.

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Clumber Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Pyruvate dehydrogenase deficiency is an inherited metabolic disorder affecting dogs. Affected dogs may present as early as 15 weeks of age with an inability to play as long as littermates. Pyruvate is an important metabolic component needed for energy production in muscle. By 1 year of age affected dogs have clinical signs of exercise intolerance including unwillingness or inability to exercise or play for more than five minutes. Affected dogs may walk slowly, sit to rest often or collapse during exercise or play. After a few minutes of rest dogs may be able to walk and play again but will tire quickly if they continue the activity. Without dietary supplementation affected dogs will die within a few years of age. High numbers of neonatal deaths have been reported in littermates of affected dogs suggesting that many affected dogs die shortly after birth.

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Cocker Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Familial nephropathy (Cocker Spaniel type) is an inherited disorder of the kidneys affecting dogs. Dogs with this disease usually start showing symptoms of chronic kidney disease between 6 months and 2 years of age. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine as early as five months of age. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house or in a crate. Affected dogs eventually die of chronic kidney failure within a year.

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Gallbladder mucoceles are an inherited disorder of the liver affecting dogs. A mucocele is a gallbladder that is severely distended by mucus. It can result in inflammation (cholecystitis) and possible rupture of the gallbladder. Affected dogs usually present with vomiting, jaundice, loss of appetite and abdominal pain. If the gallbladder is not removed before rupture, the dog will become very painful and die. Though it is known that dogs inheriting one copy of the causal mutation are at increased risk for this disease, the presentation of gallbladder mucoceles is variable between dogs and not all dogs inheriting a copy of the mutation will develop the disease. This suggests that there are environmental or other genetic factors responsible for modifying disease expression. Because gallbladder mucoceles have symptoms that are common to other diseases, it can be difficult to diagnosis without ultrasonography or surgery.

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Glycogen storage disease VII, PFK deficiency is an inherited metabolic disorder affecting several breeds of dog. Glycogen is the primary source of energy for the body. Affected dogs have insufficient activity of the phosphofructokinase Enzyme which breaks down glycogen for energy.

Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Collie

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Cyclic neutropenia is an inherited disease affecting collies. Affected dogs undergo an oscillating cycle in the quantity of a type of white blood cells called neutrophils, important for controlling and preventing bacterial and fungal infections. Affected dogs have neutrophil counts oscillating between normal quantities to almost zero neutrophils on an approximately 2 week frequency. Affected puppies often die within a few days of birth or are stunted in growth. Affected dogs have a gray coat color and are vulnerable to infections during periods of low neutrophil counts. Symptoms associated with this condition are normally seen during or immediately after a period of low neutrophil counts. Symptoms include fever, diarrhea, inflamed lymph nodes, gingivitis, lameness and mild bleeding episodes. Even with medical care, most dogs die before 2 years of age due to liver or kidney failure.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Coton de Tulear

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Multifocal retinopathy 2 is an inherited disorder of the retina affecting dogs. Affected dogs typically present around 15 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 2.

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Neonatal cerebellar Ataxia is an early onset, inherited neurologic disease affecting Coton de Tulears. Symptoms present shortly after birth when normal littermates develop coordinated movement. In affected dogs the Cerebellum does not function properly and pups do not develop the balance necessary to stand or walk normally.

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Primary hyperoxaluria is a rare inherited metabolic disorder affecting Coton de Tulears. Primary hyperoxaluria is characterized by a deficiency in the enzymes that break down the organic compound glyoxylate, a normal part of the metabolic process. As a result, there is an accumulation of oxalate and calcium oxalate crystals, primarily in the kidneys. Affected puppies present around 3 to 4 weeks of life with renal failure due to excessive crystal formation in the kidneys. Symptoms of acute renal failure can include inappetence, vomiting, lethargy, decreased urine production, abdominal pain, blood in the urine and death. Affected dogs typically die or are euthanized within the first two months of life.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Curly Coated Retriever

Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Glycogen storage disease IIIa is an inherited metabolic disorder affecting Curly Coated Retrievers. Glycogen is the primary carbohydrate used by the body for energy. Affected dogs do not have sufficient enzymes to break down glycogen causing accumulation of glycogen in the liver and muscle. Though symptoms are mild in the first year of life and disease progression is variable, affected dogs typically present between one and two years of age with exercise intolerance, lethargy, enlarged liver, and in some dogs, collapse with exercise secondary to low blood sugar. Progressive liver and muscle damage occur with age as glycogen continues to accumulate in cells.

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Czechoslovakian Wolfdog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Dachshund

Mucopolysaccharidosis (MPS) IIIA is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanized within a few years of diagnosis.

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Narcolepsy (Dachshund type) is an inherited disorder affecting dogs. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Neuronal ceroid lipofuscinsosis 1 (NCL1) is a rare lysosomal storage disease identified in a Miniature Dachshund. NCL1 is due to a deficiency in the enzyme palmitoyl protein thioesterase (PPT1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. The affected dog presented with progressive neurologic disease at 9 months of age though the owner stated that the symptoms began a “number of months” earlier. Symptoms included a lack of muscle coordination, abnormal gait, and difficulty balancing and jumping. The dog also displayed signs of dementia including aimless wandering behavior with episodes of confusion, depression, aggressive behavior, loss of learned behavior, blindness, seizures and frequent barking. These symptoms rapidly became more severe and the dog was euthanized at 14 months of age.

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Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Dalmation

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Doberman Pinscher

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Dilated cardiomyopathy is an inherited disorder of the heart affecting several breeds of dog. This disease shows incomplete penetrance, meaning that not all dogs at risk (those with one or two copies of the mutation) will develop the disease. In affected dogs, the heart muscle is weak and the chambers become dilated with thin walls. These enlarged hearts have poor contractility and are prone to arrhythmias. Affected dogs present with clinical signs of poor heart function between 1 to 8 years of age. Affected dogs develop clinical signs as they age ranging from mild exercise intolerance to sudden death or congestive heart failure. Signs of heart disease include exercise intolerance, fatigue, coughing, difficulty breathing, rapid breathing, fainting and sudden death. Affected dogs that don’t die suddenly from arrhythmias usually die from congestive heart failure around 7 years of age. Different disease genes and environmental factors play a role the development of dilated cardiomyopathy in dogs. Therefore, not all dogs with this disease will have the same genetic mutation.

*NOTE: The PDK4 gene mutation was originally identified in the Doberman pinscher and has only been associated with dilated cardiomyopathy in this breed. Though this mutation has been identified in several other breeds, including those known to develop dilated cardiomyopathy, a correlation between this mutation and dilated cardiomyopathy has not been established for these breeds. For this reason, the most cautious medical approach for any dog inheriting the PDK4 gene mutation would be to make all health and breeding decisions based upon cardiac exam results and recommendations from a board certified veterinary cardiologist. Dogs from breeds other than the Doberman pinscher that have been found to have inherited this mutation should not be removed from breeding programs based upon the results of this genetic test alone.

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Narcolepsy (Doberman Pinscher type) is an inherited disorder affecting Doberman Pinschers. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Dogue de Bordeaux

Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Dutch Shepherd

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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English Cocker Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Familial nephropathy (Cocker Spaniel type) is an inherited disorder of the kidneys affecting dogs. Dogs with this disease usually start showing symptoms of chronic kidney disease between 6 months and 2 years of age. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine as early as five months of age. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house or in a crate. Affected dogs eventually die of chronic kidney failure within a year.

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Gallbladder mucoceles are an inherited disorder of the liver affecting dogs. A mucocele is a gallbladder that is severely distended by mucus. It can result in inflammation (cholecystitis) and possible rupture of the gallbladder. Affected dogs usually present with vomiting, jaundice, loss of appetite and abdominal pain. If the gallbladder is not removed before rupture, the dog will become very painful and die. Though it is known that dogs inheriting one copy of the causal mutation are at increased risk for this disease, the presentation of gallbladder mucoceles is variable between dogs and not all dogs inheriting a copy of the mutation will develop the disease. This suggests that there are environmental or other genetic factors responsible for modifying disease expression. Because gallbladder mucoceles have symptoms that are common to other diseases, it can be difficult to diagnosis without ultrasonography or surgery.

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Glycogen storage disease VII, PFK deficiency is an inherited metabolic disorder affecting several breeds of dog. Glycogen is the primary source of energy for the body. Affected dogs have insufficient activity of the phosphofructokinase Enzyme which breaks down glycogen for energy.

Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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English Coonhound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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English Setter

Neuronal ceroid lipofuscinosis 8 (NCL8) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present with mental dullness between 14 to 18 months of age. Progressive loss of vision, lack of muscle coordination and an abnormally stiff gait are noticed shortly thereafter. Within a few months of disease onset, seizures begin and are often the cause of death in an affected dog. Death or euthanasia usually occurs by 2 years of age.

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English Shepherd

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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English Springer Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Familial nephropathy (English Springer Spaniel type) is an inherited disorder of the kidneys affecting dogs. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine usually between 4-6 months of age. Symptoms of chronic kidney disease begin a few months after excessive protein is noted in the urine. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house or in a crate. Affected dogs typically die of chronic kidney failure by one to two years of age.

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Glycogen storage disease VII, PFK deficiency is an inherited metabolic disorder affecting several breeds of dog. Glycogen is the primary source of energy for the body. Affected dogs have insufficient activity of the phosphofructokinase Enzyme which breaks down glycogen for energy.

Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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English Toy Spaniel

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Finnish Lapphund

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multifocal retinopathy 3 is an inherited disorder of the retina affecting dogs. Affected dogs typically present between 9 months and 2 years of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Some affected dogs also present with obvious retinal folding. Progression of retinal changes is usually slow. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 3.

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Pompe disease is an inherited metabolic disorder affecting dogs. Glycogen is the primary carbohydrate used by the body for energy. Affected dogs do not have sufficient enzymes to break down glycogen causing accumulation of glycogen in the multiple organs, including muscle, liver, heart and brain. Affected puppies typically present at about 6 months of age with generalized muscle weakness. Dogs with this disease develop an enlarged heart and dilated esophagus (megaesophagus). Megaesophagus causes regurgitation and vomiting and predisposes dogs to aspiration pneumonia. Over time the muscle weakness and regurgitation/vomiting worsen. Dogs may also have an unusual sounding bark, pant excessively and have difficulty breathing. Dogs usually are euthanized or die of heart failure by 1.5 years of age.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Finnish Spitz

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Flat Coated Retriever

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Fox Terrier

Congenital hypothyroidism with goiter (CHG) is an inherited disease affecting dogs. Affected dogs lack an enzyme that is important in the production of thyroid hormone which is necessary for the normal development and metabolism of dogs. At 3-8 weeks of age, dogs with CHG are generally noted to have reduced movement and to be small when compared to their littermates. Enlarged thyroid glands (goiter) are often noticeable as a swelling on the neck. Affected puppies exhibit dwarfism with short legs, large heads, and fluffy hair coats absent of guard hairs. In addition, affected dogs develop a wide variety of neurological and neuromuscular deficits. The condition progresses to failure to thrive and death. Most symptoms can be prevented or will regress if the condition is diagnosed early and affected dogs are treated with thyroid hormone medication. However, the thyroid glands may continue to enlarge over time despite treatment and can eventually obstruct the dog’s airway.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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French Bulldog

The Petagenics® B locus (Brown) coat colour test evaluates the TYRP1 gene for all three brown variants (bc, bd, and bs) to determine the overall B locus genotype for the dog. Dogs with B/B and B/b genotypes can have a black coat, whereas dogs with a b/b genotype can have a brown coat. However, the dog's coat colour is also dependent on the dog's genotypes at the E, K, and A genes among others. The B locus also determines the colour of the dog's nose and foot pads, regardless of the dog's genotypes at the E, K, and A genes.

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Alopecia, Black hair follicular dysplasia, Blue Doberman syndrome, coat colour dilution, Colour dilution alopecia, Colour mutant alopecia, D locus, D-allele, D-locus, Dilution gene, BHFD, CDA

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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black coat colour, E locus, E/e locus, extension locus, red coat colour, yellow coat colour

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Hereditary cataracts is an inherited eye disease in dogs. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with Hereditary cataracts most commonly present within a few weeks to months after birth with small cataracts that are visible on a veterinary eye exam. Cataracts from this disease will eventually affect the whole lens in both eyes leading to complete blindness between 2-3 years of age. Of note, not all forms of cataracts are inherited and environmental factors such as UV damage can also play a role in the severity of disease.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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German Pinscher

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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German Shepherd Dog

Anhidrotic ectodermal dysplasia is an inherited disease affecting dogs. This disease most commonly presents at birth. Affected dogs are born with symmetrical hairlessness on the forehead and the area over the lower back. Malformed and/or absent teeth (oligodontia) are also a feature of the disorder. Dogs may also have an inability to sweat (anhidrosis) due to missing or abnormal sweat glands. Tear production can be abnormal and dogs often develop dry eye (keratoconjuncitivitis sicca). Affected dogs are more prone to respiratory infections than other dogs and frequently have chronic nasal discharge. Prognosis for survival to adulthood is good. However, affected dogs should be monitored for signs of respiratory infections (cough, rapid or difficult breathing, and exercise intolerance) as they are sometimes fatal.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hemophilia A (German shepherd type 1) is an inherited bleeding disorder affecting dogs. Hemophilia A (German shepherd type 1) is caused by a deficiency of coagulation factor VIII, which is an essential protein needed for normal blood clotting. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Dogs may show signs of lameness or stiffness if bleeding occurs in the joints or muscle. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Hemophilia A is an inherited bleeding disorder affecting dogs. Hemophilia A is caused by a deficiency of coagulation factor VIII, which is an essential protein needed for normal blood clotting. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Dogs may show signs of lameness or stiffness if bleeding occurs in the joints or muscle. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Leukocyte adhesion deficiency type III is an inherited blood disorder affecting dogs. Affected dogs have abnormal platelet and white blood cell activity resulting in abnormal blood clotting and immune system function. Dogs may present with lameness, prolonged bleeding and recurrent, chronic infections especially of the skin and gums and often accompanied by fever. Other symptoms include persistently elevated white blood cell counts (leukocytosis). Dogs can live for years with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions.

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Mucopolysaccharidosis (MPS) VII is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme beta-glucuronidase, which is responsible for breaking down glycosaminoglycans (GAGs). GAGs are an important component of connective tissue. In affected dogs, there is an accumulation of breakdown products in cells causing abnormal growth and function of various organ systems. Clinical signs of MPS VII are most commonly associated with accumulations in the bones and joints. Therefore, affected dogs typically present between 4 to 8 weeks of age with symptoms of bone and joint disease. Affected puppies have disproportionally large heads with short muzzles, broad faces, low-set ears and domed skulls. Other skeletal deformities include broad chests, joint laxity and deformed, crooked legs resulting in an inability to walk by 5 months of age. Affected puppies also have cloudy eyes and are smaller than their normal littermates. Dogs may also present with heart problems. While affected dogs can survive with assistance for several years, they are often euthanized due to a poor quality of life.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Renal cystadenocarcinoma and nodular dermatofibrosis is an inherited genetic predisposition to kidney, dermal and uterine cancer in dogs. This condition manifests as a combination of abnormal masses in the kidneys and the skin of both male and female dogs and also the uterus in female dogs. Affected dogs usually present around 6.5 years of age with small, firm bumps under the surface of the skin, more commonly located on the limbs and head. The kidney tumors often form nodular masses and cysts that can cause the kidneys to become enlarged, abnormally shaped and scarred. Affected dogs often show signs of chronic kidney disease which may include frequent urination, blood in the urine, frequent drinking, depression, inappetence and weight loss. The disease typically presents over the age of 5, and tumors may not develop until dogs are 9 to 11 years of age. The average age of death for affected dogs is 9.3 years due to renal failure or metastatic disease. Puppies that inherit two copies of the FLCN gene mutation most likely die very early in gestation; therefore, breeding two dogs with renal cystadenocarcinoma and nodular dermatofibrosis may result in reduced litter size.

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German Shorthaired Pointer

Cone degeneration (German Shorthaired Pointer type) is an inherited eye disease affecting dogs. Affected dogs develop day-blindness (blindness in bright light) and photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on a veterinary eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Von Willebrand disease type II (VWDII) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDII have decreased levels and abnormal function of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. Affected dogs generally have moderate to severe signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost and experience prolonged bleeding after surgery or trauma. The bleeding may be severe enough to cause death. Due to variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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German Wirehaired Pointer

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Von Willebrand disease type II (VWDII) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDII have decreased levels and abnormal function of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. Affected dogs generally have moderate to severe signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost and experience prolonged bleeding after surgery or trauma. The bleeding may be severe enough to cause death. Due to variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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Giant Schnauzer

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Glen of Imaal Terrier

Progressive retinal atrophy, cone-rod dystrophy 3 (PRA-crd3) is an adult-onset inherited eye disease affecting Glen of Imaal Terriers. PRA-crd3 occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Affected dogs initially have changes in reflectivity and appearance of a structure behind the retina called the tapetum that is typically observed on a veterinary eye exam at 3 years of age. Between 3 and 5 years of age affected dogs show signs of vision loss in dim light (night blindness) and loss of peripheral vision. Gradually visual deficits progress to complete vision loss over several years.

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Golden Retriever

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears. In addition, affected dogs will develop blisters and ulcers inside the mouth and in the esophagus. Ulcerations of the skin and mucous membranes are painful and can become infected. Blistering of the skin tends to cease at around 8 months of age however, ulcers of the mouth and esophagus persist into adulthood. Dogs with DEB are often smaller than littermates, likely due to difficulties eating.

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Ichthyosis (Golden Retriever type) is an inherited condition of the skin affecting dogs. The age of onset and severity of disease are highly variable, however most affected dogs present before one year of age with flaky skin and dull hair. Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dog’s lifetime. While the prognosis is generally good for affected dogs, they are at increased risk for skin infections.

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Golden Retriever muscular dystrophy is an inherited disease affecting Golden Retrievers. Affected dogs are unable to produce adequate amounts of a protein important for muscle contraction and relaxation. By 10 weeks of age affected puppies are noticeably smaller than littermates shortly after birth due to decreased growth associated with the inability to nurse. Affected dogs often need to be hand or bottle fed to prevent starvation. Beginning around 6 weeks of age, dogs begin to develop a progressively abnormal gait, muscle weakness, excessive drooling, muscle atrophy of the head and trunk, abnormal extension or flexion of joints and a “roach backed” appearance in the lumbar spine that eventually progresses to a concave flexion. Affected dogs may also suffer from aspiration pneumonia and cardiac disease. The prognosis is related to disease severity with some dogs dying soon after birth due to disease complications and others surviving for years with only mild symptoms.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Affected puppies may die shortly after birth and be smaller than littermates. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal atrophy, golden retriever 1 (GR-PRA1) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 6 to 7 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, eventually progressing to complete blindness in most affected dogs.

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Progressive retinal atrophy, golden retriever 2 (GR-PRA2) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 4 to 5 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, progressing to complete blindness in most affected dogs.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Sensory ataxic neuropathy is an inherited neurologic condition affecting Golden Retrievers. Affected dogs typically present between 2 to 8 months of age with signs of neurologic disease. Symptoms include a lack of muscle coordination, abnormal gait and difficulty balancing especially affecting the hind limbs. Muscle mass appears normal and the condition does not appear to be painful. Although the disease progresses slowly, dogs are often humanely euthanized before three years of age.

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Gordon Setter

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Neuronal ceroid lipofuscinosis 8 (NCL8) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present with mental dullness between 14 to 18 months of age. Progressive loss of vision, lack of muscle coordination and an abnormally stiff gait are noticed shortly thereafter. Within a few months of disease onset, seizures begin and are often the cause of death in an affected dog. Death or euthanasia usually occurs by 2 years of age.

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Great Dane

Harlequin is a specific coat color pattern marked by patches of full color on a white background. This patterning is a result of the interaction of two different genes, the merle (M Locus) gene, PMEL, and a modifier gene, PSMB7, at the harlequin (H locus). Dogs that have one copy of H in addition to one copy of M will have the characteristic harlequin coat color pattern.

 

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Inherited myopathy of Great Danes is a rare inherited degenerative muscle disorder. Affected dogs typically have an onset of symptoms before one year of age. Symptoms most commonly include difficulties exercising, muscle wasting and tremors brought on by exercise. Dogs may also have an abnormal posture with the hind legs tucked under the body and the tail extended. Occasionally dogs exhibit difficulty breathing. Most dogs that present with symptoms develop a severe, rapidly progressive form of the disease and are euthanized between 1 to 2 years of age. However, it has been reported that some dogs may have a more mild form of the disease and may live into adulthood without significant progression of the symptoms.

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Great Pyrenees

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Thrombasthenia is an inherited bleeding disorder affecting dogs. Affected dogs have abnormal platelet activity. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs usually present between 3 and 6 months of age with bleeding gums as their permanent teeth are erupting. Affected dogs often have recurrent nose bleeds until approximately 2 years of age. Affected dogs may also have skin bruising and increased and prolonged bleeding after surgery, after trauma and when in heat. The prognosis for affected dogs is good, but they are usually smaller than normal for their breed and must receive iron supplementation to prevent deficiency which can occur during growth or periods of chronic bleeding.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Greater Swiss Mountain Dog

Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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P2RY12 receptor platelet disorder is an inherited bleeding disorder affecting Greater Swiss Mountain Dogs. Affected dogs have abnormal platelet activity. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs typically appear healthy but can have nosebleeds and bleed from the mouth when juvenile teeth are lost. Affected dogs are often not identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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Greyhound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Greyhound polyneuropathy is an inherited progressive neurologic disorder affecting Greyhounds. Affected dogs typically present between three and nine months of age with exercise intolerance and an abnormal “bunny-hopping” gait. The symptoms progress to severe muscle wasting and ataxia. Affected dogs may also have an abnormal sounding bark, be unable to bark, have noisy breathing and/or have difficulty breathing. In severe cases dogs can die from respiratory failure, but typically, affected dogs are humanely euthanized by one year of age.

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Groenendael

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hovawart

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Irish Red and White Setter

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Globoid cell leukodystrophy is an inherited lysosomal storage disorder affecting dogs. Affected dogs are normal at birth but at about 3 to 6 months of age, these dogs show signs of muscle weakness and uncoordinated movement. Affected dogs have a deficiency of the enzyme galactocerebrosidase which is responsible for breaking down myelin in the nervous system. As a result, there are abnormal accumulations of fatty myelin bi-products that affect the ability of certain nervous cells to make myelin. Symptoms include crossing legs while walking, widely spaced stance, jerky movements, high stepping and body tremors. Overall muscle tone is decreased and reflexes are decreased or absent. As the disease progresses, blindness, paralysis and death can occur.

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Leukocyte adhesion deficiency, type I is an inherited immunodeficiency disorder. Affected dogs have abnormal white blood cell (leukocyte) activity which results in a severely impaired immune system. Dogs usually develop symptoms shortly after birth and have recurrent infections throughout life. Symptoms include infections of the umbilicus, skin, bones, lungs and uterus as well as gingivitis, impaired wound healing, enlarged lymph nodes and low body weight. On blood work, affected dogs have persistently elevated white blood cell counts (leukocytosis). Without treatment puppies die within a few weeks of age. Even when treated with antibiotics, affected dogs will typically die by 6 months of age as a result of the recurrent and severe infections.

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Progressive retinal atrophy (Irish Setter type) is an early onset, inherited eye disease affecting dogs. Progressive retinal atrophy (Irish Setter type) occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. The rod type cells are affected first and dogs present around 1 month of age with vision deficits in dim light (night blindness) and loss of peripheral vision. By 5 months of age dogs have complete loss of night vision and also show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual variation in disease progression, generally the disease follows a rapid progression and dogs are typically completely blind by 1 year of age.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Irish Setter

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Globoid cell leukodystrophy is an inherited lysosomal storage disorder affecting dogs. Affected dogs are normal at birth but at about 3 to 6 months of age, these dogs show signs of muscle weakness and uncoordinated movement. Affected dogs have a deficiency of the enzyme galactocerebrosidase which is responsible for breaking down myelin in the nervous system. As a result, there are abnormal accumulations of fatty myelin bi-products that affect the ability of certain nervous cells to make myelin. Symptoms include crossing legs while walking, widely spaced stance, jerky movements, high stepping and body tremors. Overall muscle tone is decreased and reflexes are decreased or absent. As the disease progresses, blindness, paralysis and death can occur.

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Leukocyte adhesion deficiency, type I is an inherited immunodeficiency disorder. Affected dogs have abnormal white blood cell (leukocyte) activity which results in a severely impaired immune system. Dogs usually develop symptoms shortly after birth and have recurrent infections throughout life. Symptoms include infections of the umbilicus, skin, bones, lungs and uterus as well as gingivitis, impaired wound healing, enlarged lymph nodes and low body weight. On blood work, affected dogs have persistently elevated white blood cell counts (leukocytosis). Without treatment puppies die within a few weeks of age. Even when treated with antibiotics, affected dogs will typically die by 6 months of age as a result of the recurrent and severe infections.

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Progressive retinal atrophy (Irish Setter type) is an early onset, inherited eye disease affecting dogs. Progressive retinal atrophy (Irish Setter type) occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. The rod type cells are affected first and dogs present around 1 month of age with vision deficits in dim light (night blindness) and loss of peripheral vision. By 5 months of age dogs have complete loss of night vision and also show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual variation in disease progression, generally the disease follows a rapid progression and dogs are typically completely blind by 1 year of age.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Irish Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hereditary footpad hyperkeratosis is an inherited disease of footpads affecting dogs. Affected dogs typically present around 4 to 5 months of age with hard, thickened footpads. With time, the abnormal footpads often develop deep cracks predisposing affected dogs to foot infections, significant pain and lameness. Thick, horny growths also commonly develop around the rim of the footpads. Toenails of affected dogs are harder than normal and appear to grow faster. In addition, some affected dogs may display a duller and softer hair coat than normal littermates.

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Irish Water Spaniel

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Irish Wolfhound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Startle disease or hyperekplexia is an inherited neurologic disorder affecting Irish Wolfhounds. Affected pups typically present between 5-7 days of age with rigid limbs and tremors when handled. Symptoms stop when puppies are relaxed or sleeping. Affected pups are unable to stand and are smaller than normal littermates. They may stop breathing and turn blue while suckling. Due to poor quality of life, affected pups are often euthanized within the first few months of life.

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Italian Greyhound

Amelogenesis imperfecta (AI) is an inherited disease of the teeth affecting Italian Greyhounds. Signs of disease are often noticed when baby teeth erupt. Affected dogs are unable to develop normal tooth enamel resulting in misshaped teeth with rough, irregular surfaces and gray or brown spotting. Affected permanent teeth are often smaller and more pointed than normal teeth. Premature, excessive enamel wear results in the appearance of larger than normal gaps between the teeth of affected dogs, even at an early age. Despite enamel defects, affected dogs are not at increased risk for periodontal disease and only rarely develop dental cavities or broken teeth.

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Jack Russell Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Late-onset ataxia is an inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 6 to 12 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With time dogs have difficulty standing and are usually euthanized by 2 years of age due to a poor quality of life.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Severe combined immunodeficiency (group A) is an inherited disease affecting dogs. Affected dogs are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease around 12 to 14 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Puppies may die shortly after vaccination with modified live vaccines. Affected dogs die within 4 months of age.

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Spinocerebellar ataxia is an early onset, inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching get worse with age and dogs are at risk of overheating. Affected dogs can also experience true epileptic seizures. Dogs with spinocerebellar ataxia are usually euthanized by 2 years of age due to a poor quality of life.

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Japanese Chin

GM2 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs have insufficient activity of the enzyme hexosaminidase A, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside in cells; especially in cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 15 to 18 months of age. Symptoms include loss of balance, altered mental state and vision loss. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die within several months of initial presentation.

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Japanese Spitz

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Keeshond

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Kerry Blue Terrier

Canine multiple system degeneration (Kerry Blue Terrier type) is a progressive inherited neurological disease affecting Kerry Blue Terriers. Affected dogs present at 3 to 6 months of age with tremors, abnormal gait and poor balance. Dogs gradually progress to severe gait abnormalities and balance issues, frequent falling, abnormal body posture, abnormal eye movement and eventually, are unable to move. Dogs continue to show normal mental awareness and social behavior despite movement disturbances. Most dogs die due to disease complications or are humanely euthanized by 2 years of age.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Komondor

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Kooikerhondje

Von Willebrand disease type III (vWDIII) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDIII have extremely low or undetectable levels of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. Affected dogs bruise easily, have frequent nosebleeds, bleed from the mouth spontaneously or when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. The bleeding may be severe enough to cause death. Dogs that have one copy of the mutation (carriers) also have decreased amounts of vWf but there is variability in the levels such that not all carriers are equally affected. Dogs that have less than 35% of the normal amount of vWf have mild to moderate signs of a bleeding disorder. Due to the variable severity of the disorder, carrier dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. However, most carrier dogs will not show symptoms of increased bleeding. Veterinarians performing surgery on known affected or carrier dogs should have ready access to blood banked for transfusions. Most carrier dogs will have a normal lifespan with this condition despite the possibility of having increased blood clotting times. Affected dogs may develop life-threatening bleeding with an accidental injury or any surgical procedure.

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Labrador Retriever

Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disease affecting dogs. Affected dogs typically present around 2-3 weeks of age with severe exercise-induced weakness of all four limbs leading to collapse. Affected dogs will have decreased reflexes in all limbs and a short-strided gait that becomes more pronounced with exercise. Dogs may be humanely euthanized at a young age due to disease severity. Treatments used for a similar, acquired form of the disease known as myasthenia gravis, are ineffective for CMS.

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Copper toxicosis (Labrador retriever type) is an inherited metabolic disease affecting dogs, resulting in chronic liver failure. Dogs with copper toxicosis have a decreased ability to excrete dietary copper from the body resulting in excessive copper storage in tissues and organs, including the liver, which can result in liver damage and subsequent cirrhosis.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Canine elliptocytosis is a rare inherited blood disorder. Normal red blood cells are round in shape but red blood cells in affected dogs appear oval-shaped and can have serrated edges. An affected dog may present with mild anemia and may be smaller than its littermates. Severe health complications have not been reported in affected dogs.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Hereditary nasal parakeratosis is an inherited disease affecting the nose of Labrador Retrievers. Beginning around 6 to 12 months of age, affected dogs develop dry, rough, gray to brown crusts and rarely, painful cracks on the tip of the nose. In some cases, lesions are also present on the haired area around the nose. The noses of affected dogs are prone to superficial bacterial infections and often become depigmented over time. Affected dogs are otherwise healthy. Symptoms often wax and wane in severity over the dog’s life. Though manageable, this disorder requires continuous topical therapy to prevent recurrence of excessive nasal crusting.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Myotubular myopathy is an inherited muscle disease known to affect Labrador Retrievers. Affected puppies are typically normal at birth, but between 7 and 19 weeks of age they present with muscle weakness especially in the hind limbs, decreased muscle mass, a hoarse bark and difficulty eating. Puppies are smaller than littermates, walk with a short, choppy gait and often fall over. The disease rapidly progresses from generalized muscle weakness and frequent episodes of collapse to a complete inability to stand or even raise their heads within 4 weeks of initial presentation. Dogs that are able to stand have an arched back and neck. While the disease is not painful, affected dogs are often euthanized between 3 and 6 months of age due to the rapid and severe progression of the disease.

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Narcolepsy (Labrador Retriever type) is an inherited disorder affecting Labrador Retrievers. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Progressive retinal atrophy, golden retriever 2 (GR-PRA2) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 4 to 5 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, progressing to complete blindness in most affected dogs.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Pyruvate kinase deficiency (Labrador Retriever type) is an inherited metabolic disease affecting Labrador Retrievers. Affected dogs have insufficient activity of the pyruvate kinase enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 2 year of age with pale gums from decreased numbers of red blood cells (anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 5 years of age.

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Retinal dysplasia/oculoskeletal dysplasia 1 is an inherited Collagen disorder affecting Labrador retrievers. Dwarfism and eye abnormalities may be apparent as early as 4 to 6 weeks of age in affected puppies. The dwarfism is characterized by shortened forelimbs that become curved as the dog grows. In puppies, the top of the head may be noticeably dome shaped compared to littermates. A range of eye abnormalities is visible on a veterinary eye exam of which retinal detachment and cataracts are the most common. Carrier dogs do not have skeletal changes but may have mild eye abnormalities, including retinal folds.

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Skeletal dysplasia 2 is an inherited musculoskeletal disease affecting Labrador Retrievers. Affected dogs develop a mild form of “disproportionate dwarfism” consisting of short legs with normal body length and width. The leg bones are shorter, thicker, and slightly curved and the front legs are frequently more affected than rear legs. Joints and eyes are not typically affected with this disease. The height of affected dogs is variable, making diagnosis based on physical characteristics alone challenging in some individuals. Mildly affected dogs from bloodlines known to produce large dogs may still fall within their breed standard for height. The causal mutation shows incomplete penetrance meaning that not all dogs inheriting two copies (one from each parent) will display obvious physical characteristics of dwarfism.

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Lagotto Romagnolo

Benign familial juvenile epilepsy is an inherited disease reported to affect Lagotto Romagnolo dogs. Affected dogs develop seizures between five to nine weeks of age but they resolve by about four months of age. Severely affected dogs may develop ataxia in addition to seizures. Because the early onset seizures reliably stop and are not associated with any other health problems, breeders have previously just regarded this finding as a known symptom of the breed. However, there are some reports of adult-onset seizures in this breed.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Lakeland Terrier

Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Lancashire Heeler

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Large Munsterlander

Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Leonberger

Polyneuropathy (Leonberger and Saint Bernard Type) is an inherited neurologic disease affecting dogs. Affected dogs most commonly present before 3 years of age with signs of generalized neurologic disease including weakness, loss of muscle tone, muscle atrophy, awkward high-stepping gait in the hind limbs, decreased reflexes, abnormal bark sounds and increased breathing sounds due to paralysis of the larynx. With time, the disease may progress to the point that affected dogs are unable to bear weight or walk. Although published reports indicate that this is an autosomal recessive condition in most dogs, meaning that two copies of the mutation are required for a dog to be affected, some dogs with a single copy of the mutation (carriers) may also be at-risk of developing the disease.

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Lhasa Apso

Hemophilia B is an inherited bleeding disorder affecting dogs. Hemophilia B is caused by a deficiency of coagulation factor IX, an essential protein needed for normal blood clotting. There is variation between breeds in the severity of the bleeding tendency with this disease. More severely affected dogs bruise easily and often get blood filled masses (hematomas) under their skin and within muscles with mild trauma. They can also have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. A mildly affected dog may present with easy and excessive bruising and frequent nosebleeds. There is significant risk for prolonged bleeding after surgery or trauma, and in some cases, the bleeding may be severe enough to cause death. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Progressive retinal atrophy, golden retriever 1 (GR-PRA1) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 6 to 7 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, eventually progressing to complete blindness in most affected dogs.

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Maltese

Glycogen storage disease Ia is an inherited metabolic disorder affecting dogs. Glycogen is the primary carbohydrate used by the body for energy. Affected dogs do not have sufficient enzymes to break down glycogen causing accumulation of glycogen in the organs of the dog, including the liver, heart and kidneys. Many affected dogs die in utero or at birth resulting in small litter sizes with mummified fetuses and stillborn puppies. Symptoms in affected puppies that survive include failure to thrive, lethargy, low blood sugar, enlarged liver, coma and difficulty breathing. Without nutritional therapy affected dogs die within 2 months of age. Even with nutritional therapy affected dogs rarely survive to 6 months of age.

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Manchester Terrier

Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Maremma Sheepdog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Mastiff

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

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Progressive retinal atrophy (Bullmastiff/Mastiff type) is an inherited eye disease affecting Bull Mastiffs and Mastiffs. Progressive retinal atrophy (Bullmastiff/Mastiff type) occurs as a result of degeneration of rod type photoreceptor cells of the retina, important for vision in dim light. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Affected dogs initially present by 18 months of age with vision loss in dim light (night blindness) and loss of peripheral vision. The visual deficits gradually progress to complete vision loss. Dogs that inherit two RHO mutations have a more rapid disease progression than dogs that have only inherited one mutation. The disease follows a variable progression and severity depending on the individual, but complete degeneration of the retina can take years.

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Miniature Bull Terrier

Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Miniature Longhaired Dachshund

Mucopolysaccharidosis (MPS) IIIA is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanized within a few years of diagnosis.

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Narcolepsy (Dachshund type) is an inherited disorder affecting dogs. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Neuronal ceroid lipofuscinsosis 1 (NCL1) is a rare lysosomal storage disease identified in a Miniature Dachshund. NCL1 is due to a deficiency in the enzyme palmitoyl protein thioesterase (PPT1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. The affected dog presented with progressive neurologic disease at 9 months of age though the owner stated that the symptoms began a “number of months” earlier. Symptoms included a lack of muscle coordination, abnormal gait, and difficulty balancing and jumping. The dog also displayed signs of dementia including aimless wandering behavior with episodes of confusion, depression, aggressive behavior, loss of learned behavior, blindness, seizures and frequent barking. These symptoms rapidly became more severe and the dog was euthanized at 14 months of age.

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Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Miniature Pinscher

Cystinuria (Miniature Pinscher type) is an inherited disease affecting kidney function in dogs. The SLC7A9 gene codes for a protein that allows the kidneys to transport cysteine and other amino acids from the urine. Normal kidneys reabsorb the amino acid cystine so that only small amounts pass into the urine, while dogs with mutations of both copies of the SLC7A9 gene fail to reabsorb cystine allowing high amounts to pass into the urine, hence the name cystinuria. Cystine can form crystals and/or stones in the urinary tract which can block the ureters or urethra and stop the normal flow of urine. Affected male dogs present with symptoms related to cysteine bladder stones around one year of age, however female dogs tend to develop symptoms later than males. Symptoms of disease include straining to urinate, frequent urination of small volumes or inability to urinate. In miniature pinschers, males and females are equally affected with excess cysteine in the urine, but obstruction of urine flow is more common in males due to differences in anatomy. Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure and even death.

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Miniature Poodle

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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GM2 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs have insufficient activity of the enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

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Neonatal encephalopathy with seizures is an inherited neurologic disease affecting dogs. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

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Osteochondrodysplasia is an inherited musculoskeletal disease affecting dogs. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected littermates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and will likely have breathing difficulty due to their deformed ribcages.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Miniature Schnauzer

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Myotonia congenita is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity. Signs of the disorder usually present when puppies begin to walk. Their gait may appear stiff and uncoordinated and they may fall frequently. Affected dogs frequently have a “bunny hop” type gait. Episodes do not appear to be painful and the muscle stiffness may improve with increased exercise. Episodes can worsen with cold and excitement. Other features include enlargement of the muscles, abnormal posture, an upper jaw that is much longer than the lower jaw, and dental abnormalities. Dogs may also exhibit excessive panting and salivation, have an abnormal bark and loud raspy breathing, and have difficulty swallowing. Dogs with this disorder typically have a normal lifespan.

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Persistent Müllerian duct syndrome (PMDS) is an inherited disorder of sexual development affecting male dogs. In early, in utero development all canine fetuses have precursors of the uterus, fallopian tubes and upper vagina called Müllerian ducts. In normal male fetuses, the Müllerian ducts regress as sexual differentiation occurs in utero allowing for development of male sexual anatomy. In affected male dogs the female reproductive organs fail to regress in utero. Approximately half of the affected male dogs have externally normal testes and are fertile, but internally have remnants of female reproductive organs, including the uterus. The other 50% of affected male dogs have cryptorchidism in addition to remnants of female reproductive structures. Cryptorchidism predisposes dogs to infertility and testicular tumors. Affected dogs may also have small testes. Male dogs may need to have a hysterectomy if the uterus becomes infected. This disorder is limited to expression in males. Females with this condition have normal internal and external female anatomy.

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Miniature Smooth Dachshund

Mucopolysaccharidosis (MPS) IIIA is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanized within a few years of diagnosis.

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Narcolepsy (Dachshund type) is an inherited disorder affecting dogs. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Neuronal ceroid lipofuscinsosis 1 (NCL1) is a rare lysosomal storage disease identified in a Miniature Dachshund. NCL1 is due to a deficiency in the enzyme palmitoyl protein thioesterase (PPT1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. The affected dog presented with progressive neurologic disease at 9 months of age though the owner stated that the symptoms began a “number of months” earlier. Symptoms included a lack of muscle coordination, abnormal gait, and difficulty balancing and jumping. The dog also displayed signs of dementia including aimless wandering behavior with episodes of confusion, depression, aggressive behavior, loss of learned behavior, blindness, seizures and frequent barking. These symptoms rapidly became more severe and the dog was euthanized at 14 months of age.

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Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Miniature Wirehaired Dachshund

Mucopolysaccharidosis (MPS) IIIA is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanized within a few years of diagnosis.

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Narcolepsy (Dachshund type) is an inherited disorder affecting dogs. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Neuronal ceroid lipofuscinsosis 1 (NCL1) is a rare lysosomal storage disease identified in a Miniature Dachshund. NCL1 is due to a deficiency in the enzyme palmitoyl protein thioesterase (PPT1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. The affected dog presented with progressive neurologic disease at 9 months of age though the owner stated that the symptoms began a “number of months” earlier. Symptoms included a lack of muscle coordination, abnormal gait, and difficulty balancing and jumping. The dog also displayed signs of dementia including aimless wandering behavior with episodes of confusion, depression, aggressive behavior, loss of learned behavior, blindness, seizures and frequent barking. These symptoms rapidly became more severe and the dog was euthanized at 14 months of age.

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Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Newfoundland

Cystinuria is an inherited disease affecting kidney function in dogs. Cystine can be detected in the urine of dogs affected with Cystinuria (Newfoundland type) as early as two days of age, but symptoms may not appear until 6-8 months of age in males and even later in females. The SLC3A1 gene codes for a protein that allows the kidneys to transport cysteine and other amino acids from the urine. Normal kidneys reabsorb the amino acid cystine so that only small amounts pass into the urine, while dogs with mutation of both copies of the SLC3A1 gene fail to reabsorb cystine allowing high amounts to pass into the urine, hence the name cystinuria. Cystine can form crystals and/or stones in the urinary tract which can block the ureters or urethra and stop the normal flow of urine. Both male and female dogs have increased amounts of cysteine in the urine, but obstruction of urine flow is more common in males due to differences in anatomy. Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure, and even death.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Thrombopathia (Newfoundland type) is an inherited bleeding disorder affecting dogs. Affected dogs have abnormal platelet function. In thrombopathia, platelets are unable to stick properly to one another and therefore cannot clot normally. The risk for excessive and spontaneous bleeding can range from mild to severe. The most common symptoms in affected dogs are recurrent nose bleeds and excessive bleeding of the gums when a dog sheds its teeth or chews on hard objects. Affected dogs can also bruise easily, get blood filled masses (hematomas) under their skin and within muscles with mild trauma. They can have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. Although dogs with this disorder are at risk for spontaneous hemorrhage and internal bleeding, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

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Norfolk Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Epidermolytic hyperkeratosis is an inherited condition of the skin affecting dogs. Affected dogs can display sloughing and blistering of the skin with rubbing as may occur when drying the pups after birth. As the dog matures, the skin becomes flaky and dark (hyperpigmented), especially in locations on the body where two skin areas may touch or rub together. The footpads, claws, teeth and hair of affected dogs are typically normal.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Norwegian Elkhound

Chondrodysplasia is an inherited disease affecting dogs. Affected dogs are unable to synthesize a protein important for cartilage and bone development resulting in dwarfism. Symptoms can include short bowed legs, shortening of outer digits, “knock-knee” appearance, hip dysplasia and muscle atrophy of hind limbs. On average, limbs of affected adults are about 10cm shorter than normal dogs. Due to abnormal bone alignment at joints, dogs with this condition may be predisposed to arthritis as they age.

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Early retinal degeneration (ERD) is an inherited eye disease affecting dogs. ERD usually presents at 3 to 10 weeks of age as general poor vision and night blindness. Affected puppies may appear to move more cautiously than littermates and have a tendency to bump into objects. ERD occurs as a result of abnormal development and degeneration of photoreceptor cells (rod and cone cells) of the retina, which are responsible for sensing light and transmitting signals to the brain, resulting in vision. The disease initially progresses rapidly, but progression slows after 6 months of age. Dogs become totally blind between 12 to 18 months of age. Between 4-5 years of age, affected dogs also develop cataracts.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Norwich Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Nova Scotia Duck Tolling Retriever

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Old English Sheepdog

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Primary ciliary dyskinesia (PCD) is an inherited disorder of the cilia affecting Old English Sheepdogs. Cilia are microscopic, hair-like structures that line the nasal cavity, trachea, and bronchi of the respiratory system, the fluid filled cavities of the brain and portions of the reproductive tract. Normal cilia move in wave-like patterns to aid the movement of fluids in the brain and reproductive tracts and prevent large particles and pathogens from getting into the lungs. In PCD, affected dogs have cilia that are either malformed or do not move. Particles and pathogens cannot be removed from the upper respiratory tract and can lead to sinusitis, bronchitis and pneumonia. Affected dogs typically present a few days after birth with respiratory disease. Symptoms include coughing, sneezing, nasal discharge and frequent respiratory infections. This disorder also causes immobility of sperm, therefore affected male dogs are sterile. Dogs with PCD may also have a transposition of organs in the thoracic and/or abdominal cavities, resulting in a mirror image of the normal placement of the heart and lungs and sometimes other organs. This transposition is called situs inversus and does not usually cause clinical problems. Dogs with this disorder can live for years if their chronic respiratory infections are managed.

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Otterhound

Thrombasthenia is an inherited bleeding disorder affecting dogs. Affected dogs have abnormal platelet activity. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs often present before one year of age with bleeding gums as their permanent teeth are erupting. Affected dogs may also have frequent bloody noses, blood in the urine (hematuria), dark red-black tarry stool (melena), bruising of the skin and prolonged bleeding after surgery or trauma.

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Papillon

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Neuroaxonal dystrophy (papillon type) is an inherited neurological disease affecting papillons. Affected dogs typically present between 1-4 months of age with an abnormal gait, hindlimb weakness, and incoordination. The disease rapidly progresses to complete paralysis, blindness, and inability to eat. Affected dogs may also exhibit tremors, loss of hearing, and extension of limbs. Dogs are typically euthanized within a few months of showing clinical signs due to the severity of the disease.

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Progressive retinal atrophy, PRA1 is an adult-onset, inherited eye disease affecting dogs. Progressive retinal atrophy, PRA1 occurs as a result of degeneration of the rod type photoreceptor cells of the retina, which are important for vision in low light. Dogs affected with progressive retinal atrophy, PRA1 typically present between 4 to 6 years of age with poor vision in dim light. On a veterinary eye exam affected dogs have changes in reflectivity and appearance of a structure behind the retina called the tapetum as well as thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Progressive retinal atrophy, PRA1 is slowly progressive and some affected dogs maintain vision in daylight for many years, sometimes for the remainder of their life.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Parson Russell Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Late-onset ataxia is an inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 6 to 12 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With time dogs have difficulty standing and are usually euthanized by 2 years of age due to a poor quality of life.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Severe combined immunodeficiency (group A) is an inherited disease affecting dogs. Affected dogs are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease around 12 to 14 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Puppies may die shortly after vaccination with modified live vaccines. Affected dogs die within 4 months of age.

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Spinocerebellar ataxia is an early onset, inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching get worse with age and dogs are at risk of overheating. Affected dogs can also experience true epileptic seizures. Dogs with spinocerebellar ataxia are usually euthanized by 2 years of age due to a poor quality of life.

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Patterdale Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Pembroke Welsh Corgi

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Exercise-induced collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. However, shortly after 5-20 minutes of strenuous exercise affected dogs will begin to walk with a wobbly, uncoordinated gait that often only affects the hind limbs. Dogs remain mentally alert and are not in pain during episodes of EIC. In some circumstances, the symptoms of EIC can progress to full body weakness with low muscle tone (flaccid paralysis), confusion, loss of consciousness, seizures and very rarely, death. The episodes typically last 5-10 minutes and most dogs will completely recover within 15-30 minutes.

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Duchenne muscular dystrophy is an inherited disease affecting dogs. Affected dogs are unable to produce adequate amounts of a protein important for muscle contraction and relaxation. Clinical signs of affected dogs include generalized muscle atrophy, a stiff or shuffling gait, difficulty standing, exercise intolerance and over flexion of the ankle joint. Affected dogs have difficulties feeding and often drool. Affected dogs are often significantly smaller than littermates by 6 weeks of age. Cardiac muscle is also compromised in affected dogs, potentially resulting in clinical heart disease.

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Progressive retinal atrophy, Rod-cone dysplasia 3 is an inherited eye disease affecting dogs. Progressive retinal atrophy, Rod-cone dysplasia 3 occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 4 weeks of age. Signs of progressive retinal atrophy including changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam by 6 to 16 weeks of age. Rod photoreceptor cells degenerate first resulting in loss of peripheral vision and night vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Most affected dogs are completely blind by 1 year of age, but some may retain limited sight until 3 to 4 years of age.

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X-linked severe combined immunodeficiency (group B) is an inherited disease affecting dogs. Affected dogs are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease around 6 to 8 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected dogs die within 4 months of age.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Pharaoh Hound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Pointer

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Pomeranian

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Gallbladder mucoceles are an inherited disorder of the liver affecting dogs. A mucocele is a gallbladder that is severely distended by mucus. It can result in inflammation (cholecystitis) and possible rupture of the gallbladder. Affected dogs usually present with vomiting, jaundice, loss of appetite and abdominal pain. If the gallbladder is not removed before rupture, the dog will become very painful and die. Though it is known that dogs inheriting one copy of the causal mutation are at increased risk for this disease, the presentation of gallbladder mucoceles is variable between dogs and not all dogs inheriting a copy of the mutation will develop the disease. This suggests that there are environmental or other genetic factors responsible for modifying disease expression. Because gallbladder mucoceles have symptoms that are common to other diseases, it can be difficult to diagnosis without ultrasonography or surgery.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Progressive retinal atrophy, Rod-cone dysplasia 3 is an inherited eye disease affecting dogs. Progressive retinal atrophy, Rod-cone dysplasia 3 occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 4 weeks of age. Signs of progressive retinal atrophy including changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam by 6 to 16 weeks of age. Rod photoreceptor cells degenerate first resulting in loss of peripheral vision and night vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Most affected dogs are completely blind by 1 year of age, but some may retain limited sight until 3 to 4 years of age.

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Vitamin D-dependent rickets type II (VDDRII) is a rare inherited form of rickets that has been reported in a Pomeranian. VDDRII is caused by a mutation in the vitamin D receptor which is important in maintaining blood calcium levels. Dogs with this disease have decreased amounts of calcium in their blood making them prone to seizures and poorly mineralized, fragile bones. A well-documented Pomeranian affected with VDDRII presented at two months of age with hair loss on the face, chest, abdomen, and thighs. The remaining hair was thin. By 4 to 5 months of age the forelegs were bowed and thicker than normal and the dog had episodes of lameness. Without adequate calcium supplementation dogs with VDDRII will die before 1 year of age.

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Poodle

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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GM2 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs have insufficient activity of the enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

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Neonatal encephalopathy with seizures is an inherited neurologic disease affecting dogs. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

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Osteochondrodysplasia is an inherited musculoskeletal disease affecting dogs. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected littermates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and will likely have breathing difficulty due to their deformed ribcages.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Portuguese Podengo

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Portuguese Water Dog

GM1 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs typically present with symptoms of neurologic disease around 2 to 6 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of break down products such as GM1 in cells, especially cells of the brain and nervous system. Symptoms include vision loss, nystagmus, difficulties walking, loss of balance, head tremors, abnormal bone growth and weight loss. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die by one year of age.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Pug

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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May-Hegglin anomaly (MHA) is an inherited disorder of blood cells. This condition is diagnosed via microscopic examination of a blood smear and is characterized by three key features: reduced numbers of normal sized platelets in the blood (thrombocytopenia), the presence of large platelets (macrothrombocytes), and abnormal neutrophils containing structures called inclusion bodies. This dog did not demonstrate clinical signs related to platelet abnormalities however, recognizing a congenital cause for macrothrombocytopenia is important because both thrombocytopenia and macrothrombocytosis can be associated with clinically important diseases. In addition, some blood analyzer machines can misinterpret macrothrombocytes as red blood cells, thus further complicating diagnoses. Though usually asymptomatic, humans with May-Hegglin anomaly have been reported to have issues with blood clotting leading to bruising and spontaneous bleeding. The Pug reported with this condition did not show increased incidence of hemorrhage and blood clotting times were normal.

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Pyruvate kinase deficiency (Pug type) is an inherited metabolic disease affecting Pugs. Affected dogs have insufficient activity of the pyruvate kinase enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 2 year of age with pale gums from decreased numbers of red blood cells (anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure between 5 to 9 years of age.

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Puli

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Pumi

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Rhodesian Ridgeback

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hemophilia B is an inherited bleeding disorder affecting dogs. Hemophilia B is caused by a deficiency of coagulation factor IX, an essential protein needed for normal blood clotting. There is variation between breeds in the severity of the bleeding tendency with this disease. More severely affected dogs present with severe bleeding after minor surgeries or trauma and occasionally exhibit spontaneous bleeding. Affected dogs may also bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, or show signs of lameness or stiffness if bleeding occurs in the joints or muscle. A mildly affected dog may present with easy and excessive bruising and frequent nosebleeds. There is significant risk for prolonged bleeding after surgery or trauma, and in some cases, the bleeding may be severe enough to cause death. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Rottweiler

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Warburg micro syndrome is an inherited developmental disease affecting dogs. Affected dogs are identified early in life with a wide variety of clinical signs including underdeveloped eyes, cataracts and abnormal membranes in the eyes, which often obstruct the pupils of the eyes (persistent pupillary membranes). In addition, affected dogs may develop generalized neurologic dysfunction and often develop paralysis of the larynx resulting in excessive breathing sounds and an abnormal bark.

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Rough Collie

Cyclic neutropenia is an inherited disease affecting collies. Affected dogs undergo an oscillating cycle in the quantity of a type of white blood cells called neutrophils, important for controlling and preventing bacterial and fungal infections. Affected dogs have neutrophil counts oscillating between normal quantities to almost zero neutrophils on an approximately 2 week frequency. Affected puppies often die within a few days of birth or are stunted in growth. Affected dogs have a gray coat color and are vulnerable to infections during periods of low neutrophil counts. Symptoms associated with this condition are normally seen during or immediately after a period of low neutrophil counts. Symptoms include fever, diarrhea, inflamed lymph nodes, gingivitis, lameness and mild bleeding episodes. Even with medical care, most dogs die before 2 years of age due to liver or kidney failure.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Saint Bernard

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Polyneuropathy (Leonberger and Saint Bernard Type) is an inherited neurologic disease affecting dogs. Affected dogs most commonly present before 3 years of age with signs of generalized neurologic disease including weakness, loss of muscle tone, muscle atrophy, awkward high-stepping gait in the hind limbs, decreased reflexes, abnormal bark sounds and increased breathing sounds due to paralysis of the larynx. With time, the disease may progress to the point that affected dogs are unable to bear weight or walk. Although published reports indicate that this is an autosomal recessive condition in most dogs, meaning that two copies of the mutation are required for a dog to be affected, some dogs with a single copy of the mutation (carriers) may also be at-risk of developing the disease.

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Saluki

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Samoyed

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hereditary nephritis is an inherited disorder of the kidneys affecting dogs. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine between two and three months of age at which time both affected male and carrier female puppies are noted to be smaller and thinner than their unaffected littermates. Affected dogs begin showing signs of chronic kidney failure between 7 and 15 months of age. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house or in a crate. Due to its X-linked inheritance, male dogs are more frequently affected with this disease than female dogs. Female dogs which carry this mutation can also show signs of kidney disease however, disease progression in females is generally slower with some dogs showing minimal to no signs of kidney disease. Affected male dogs eventually die of chronic kidney failure by 15 months of age.

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Schipperke

Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Scottish Deerhound

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Scottish Terrier

Von Willebrand disease III (vWDIII) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDIII have extremely low or undetectable levels of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. Affected dogs bruise easily, have frequent nosebleeds, bleed from the mouth spontaneously or when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. The bleeding may be severe enough to cause death. Dogs that have one copy of the mutation (carriers) also have decreased amounts of vWf but there is variability in the levels such that not all carriers are equally affected. Dogs that have less than 35% of the normal amount of vWf have mild to moderate signs of a bleeding disorder. Due to the variable severity of the disorder, carrier dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected or carrier dogs should have ready access to blood banked for transfusions. Most carrier dogs will have a normal lifespan with this condition despite increased blood clotting times. Affected dogs may develop life-threatening bleeding with an accidental injury or any surgical procedure.

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Sealyham Terrier

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Shetland Sheepdog

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Gallbladder mucoceles are an inherited disorder of the liver affecting dogs. A mucocele is a gallbladder that is severely distended by mucus. It can result in inflammation (cholecystitis) and possible rupture of the gallbladder. Affected dogs usually present with vomiting, jaundice, loss of appetite and abdominal pain. If the gallbladder is not removed before rupture, the dog will become very painful and die. Though it is known that dogs inheriting one copy of the causal mutation are at increased risk for this disease, the presentation of gallbladder mucoceles is variable between dogs and not all dogs inheriting a copy of the mutation will develop the disease. This suggests that there are environmental or other genetic factors responsible for modifying disease expression. Because gallbladder mucoceles have symptoms that are common to other diseases, it can be difficult to diagnosis without ultrasonography or surgery.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Von Willebrand disease type III (vWDIII) (Shetland sheepdog type) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDIII (Shetland sheepdog type) have extremely low or undetectable levels of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting.

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Shiba Inu

GM1 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs typically present with symptoms of neurologic disease around 5 to 6 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of break down products such as GM1 in cells, especially cells of the brain and nervous system. Symptoms include vision loss, difficulties walking, loss of balance, head tremors, lethargy and weight loss. By 9 to 12 months of age affected dogs are lethargic, have cloudy corneas, and may have involuntary muscle contractions. Dogs usually die by 15 months of age.

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Shih Tzu

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Prekallikrein deficiency is a rare inherited blood disorder affecting dogs. Prekallikrein is a protein that is part of the blood clotting process, and when deficient, increases the time for blood to clot. Dogs reported with this condition often do not show increased incidence of hemorrhage however, recognizing a congenital cause for increased blood clotting times is important because it can be associated with clinically important diseases. Dogs with this disorder can have severe bleeding if they have concurrent deficiencies in other proteins required for normal blood clotting. Dogs with a bleeding disorder may bruise easily, have frequent nosebleeds and exhibit prolonged bleeding after surgery or trauma. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have prekallikrein deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

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Siberian Husky

Cone degeneration is an inherited eye disease affecting dogs. Affected dogs develop day blindness (blindness in bright light) and photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Silky Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Sloughi

Progressive retinal atrophy (Sloughi type) is a late onset, inherited eye disease affecting Sloughi dogs. Progressive retinal atrophy (Sloughi type) occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. The rod type cells are affected first and dogs present around 2-3 years of age with vision deficits in dim light (night blindness) and loss of peripheral vision. Over years affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual variation in age of onset and the rate of disease progression, the disease generally follows a slow progression and dogs may or may not become completely blind.

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Smooth Collie

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

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Cyclic neutropenia is an inherited disease affecting collies. Affected dogs undergo an oscillating cycle in the quantity of a type of white blood cells called neutrophils, important for controlling and preventing bacterial and fungal infections. Affected dogs have neutrophil counts oscillating between normal quantities to almost zero neutrophils on an approximately 2 week frequency. Affected puppies often die within a few days of birth or are stunted in growth. Affected dogs have a gray coat color and are vulnerable to infections during periods of low neutrophil counts. Symptoms associated with this condition are normally seen during or immediately after a period of low neutrophil counts. Symptoms include fever, diarrhea, inflamed lymph nodes, gingivitis, lameness and mild bleeding episodes. Even with medical care, most dogs die before 2 years of age due to liver or kidney failure.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. The mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine.

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

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Smooth Fox Terrier

Congenital hypothyroidism with goiter (CHG) is an inherited disease affecting dogs. Affected dogs lack an enzyme that is important in the production of thyroid hormone which is necessary for the normal development and metabolism of dogs. At 3-8 weeks of age, dogs with CHG are generally noted to have reduced movement and to be small when compared to their littermates. Enlarged thyroid glands (goiter) are often noticeable as a swelling on the neck. Affected puppies exhibit dwarfism with short legs, large heads, and fluffy hair coats absent of guard hairs. In addition, affected dogs develop a wide variety of neurological and neuromuscular deficits. The condition progresses to failure to thrive and death. Most symptoms can be prevented or will regress if the condition is diagnosed early and affected dogs are treated with thyroid hormone medication. However, the thyroid glands may continue to enlarge over time despite treatment and can eventually obstruct the dog’s airway.

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Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Primary lens luxation is an inherited abnormality of the eye affecting several breeds of dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to glaucoma and vision loss.

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Spinocerebellar ataxia is an early onset, inherited neurologic disease affecting dogs. Dogs with this disease present with incoordination and loss of balance between 2 to 6 months of age. The disease is progressive with affected dogs developing a “prancing” gait and often falling. With this form of ataxia dogs may also have episodes of muscle twitching and rigidity that can appear like seizures but dogs are aware of their surroundings during these attacks. The episodes of muscle twitching get worse with age and dogs are at risk of overheating. Affected dogs can also experience true epileptic seizures. Dogs with spinocerebellar ataxia are usually euthanized by 2 years of age due to a poor quality of life.

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Soft Coated Wheaten Terrier

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Spanish Water Dog

Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

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Neuroaxonal Dystrophy (Spanish water dog type) is an inherited progressive neurological disease affecting dogs. Affected dogs typically present between 6 months to 1 year of age with an abnormal gait, incontinence, and behavior changes including dullness, nervousness, and vocalization. Some dogs may also display vision loss and decreased muscle tone. Dogs are typically euthanized within a year of diagnosis due to disease progression.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Stabyhound

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Staffordshire Bull Terrier

Hereditary cataracts is an inherited eye disease in dogs. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with Hereditary cataracts most commonly present within a few weeks to months after birth with small cataracts that are visible on a veterinary eye exam. Cataracts from this disease will eventually affect the whole lens in both eyes leading to complete blindness between 2-3 years of age. Of note, not all forms of cataracts are inherited and environmental factors such as UV damage can also play a role in the severity of disease.

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L-2- hydroxyglutaric aciduria (L-2-HGA) is an inherited neurometabolic disorder affecting dogs. Affected dogs have a mutation in the enzyme that breaks down L-2-hydroxyglutaric acid resulting in increased levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid and progressive damage to the brain. Affected dogs typically present between 4 months and one year of age with symptoms of neurologic disease including “wobbly” gait, tremors, seizures, muscle stiffness with exercise or excitement and changes in behavior. In some cases, affected dogs do not present with disease until later in life.

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Standard Longhaired Dachshund

Mucopolysaccharidosis (MPS) IIIA is an inherited lysosomal storage disorder. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanized within a few years of diagnosis.

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Narcolepsy (Dachshund type) is an inherited disorder affecting dogs. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Neuronal ceroid lipofuscinosis 2 (NCL2) is an early-onset, lysosomal storage disease affecting dogs. NCL2 is due to a deficiency in the enzyme tripeptidyl peptidase (TPP1), which is necessary to break down certain proteins in the cells. As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. Affected dogs present with progressive neurologic disease around 9 months of age. Symptoms include loss of learned behavior, mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior. Symptoms progress very quickly and dogs typically die by 12 months of age.

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Osteogenesis imperfecta (OI) is an inherited collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

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Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4) is an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age.

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Standard Poodle

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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GM2 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs have insufficient activity of the enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

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Neonatal encephalopathy with seizures is an inherited neurologic disease affecting dogs. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

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Osteochondrodysplasia is an inherited musculoskeletal disease affecting dogs. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected littermates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and will likely have breathing difficulty due to their deformed ribcages.

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Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type photoreceptor cells of the retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

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Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

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Standard Schnauzer

Degenerative myelopathy caused by mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, though it is not clear whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the white matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. Affected small breed dogs often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic.

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Myotonia congenita is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity. Signs of the disorder usually present when puppies begin to walk. Their gait may appear stiff and uncoordinated and they may fall frequently. Affected dogs frequently have a “bunny hop” type gait. Episodes do not appear to be painful and the muscle stiffness may improve with increased exercise. Episodes can worsen with cold and excitement. Other features include enlargement of the muscles, abnormal posture, an upper jaw that is much longer than the lower jaw, and dental abnormalities. Dogs may also exhibit excessive panting and salivation, have an abnormal bark and loud raspy breathing, and have difficulty swallowing. Dogs with this disorder typically have a normal lifespan.

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Persistent Müllerian duct syndrome (PMDS) is an inherited disorder of sexual development affecting male dogs. In early, in utero development all canine fetuses have precursors of the uterus, fallopian tubes and upper vagina called Müllerian ducts. In normal male fetuses, the Müllerian ducts regress as sexual differentiation occurs in utero allowing for development of male sexual anatomy. In affected male dogs the female reproductive organs fail to regress in utero. Approximately half of the affected male dogs have externally normal testes and are fertile, but internally have remnants