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Degenerative myelopathy

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Degenerative myelopathy (DM) is a disease that affects the spinal cord in dogs, causing progressive muscle weakness and loss of coordination. It acts similarly to Lou Gehrig’s disease, or ALS (amyotrophic lateral sclerosis), in humans. There is no cure for DM; however, routine physical therapy may delay the clinical progression of this disease. 

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Exercise-induced collapse

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​Exercise Induced Collapse (EIC)  Exercise Induced Collapse (EIC) is a syndrome characterised by otherwise fit and healthy dogs collapsing after exercise. A dog suffering from EIC would get weak or lose balance after just 5 to 10 minutes of intense physical activity.

It is an inherited neuromuscular disease.  From a scientific perspective, the disease is caused by a mutation in the dynamin1 DNM1 gene, which is instrumental in nerve signal transmission.  It is inherited as an autosomal recessive trait, meaning the causative mutation must be inherited from both parents for the puppy to be affected.  Carriers of EIC appear normal and have normal exercise tolerance, but they will pass the causative genetic mutation on to half of their puppies.

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Hereditary nasal parakeratosis dog

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Genetic testing of the SUV39H2 gene in Labrador Retrievers will reliably determine whether a dog is a genetic Carrier of hereditary nasal parakeratosis. Hereditary Nasal Parakeratosis is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SUV39H2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Labrador Retrievers that are not carriers of the mutation have no increased risk of having affected pups.

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Progressive Retinal Atrophy, Cone-Rod Dystrophy 4

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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. However, age of onset varies significantly in PRA-crd4 affected dogs, and has been reported from 1 to 15 years of age. Mutations in the RPGRIP1 gene show 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. Although progression tends to be relatively slow, most affected dogs (especially those with an early age of onset) will progress to complete blindness.

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Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration

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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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Retinal Dysplasia/Oculoskeletal Dysplasia 1

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RD/OSD 1 is a genetic disease of collagen caused by a mutation in the COL9A3 gene. Affected dogs are typically identified before 2 months of age with a combination of marked skeletal malformation (particularly in the front limbs) and severe vision deficits. As these puppies grow, forelimb dwarfism becomes evident and the forelimbs become severely bowed resulting in abnormal joint development of the elbow putting dogs at risk for early-onset arthritis. Owners of affected dogs may also notice abnormal, dome-shaped skulls. The ocular abnormalities of affected dogs range from mild to severe. Abnormal development of the retina, retinal detachment, and cataracts are common and frequently result in blindness or severe vision deficits. Unfortunately, there is no cure for RD/OSD1

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Von Willebrand Disease I

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Von Willebrand’s Disease is an inherited bleeding disorder that can prevent normal blood clotting and lead to severe bleeding. It’s been documented in over 50 dog breeds, and some breeds are at a high risk of developing von Willebrand’s Disease. This bleeding disorder in dogs can range from mild to life-threatening, so it’s important to know if your dog has this disease.

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IC Locus (Improper Coat/Furnishings

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The improper coat/furnishings (IC) Locus determines if a dog will have longer hair around the muzzle and eyebrows (facial furnishings) or a lack of furnishings (called improper coat in breeds for which facial furnishings are standard). A DNA variant in the RSPO2 gene, which functions in hair follicle development, results in the production of furnishings in multiple breeds and is found in all wire-haired dogs.

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CERF eyes

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The OFA Eye Certification exam (used to be known as CERF) consists of indirect ophthalmoscopy and slit lamp biomicroscopy and is reserved for dogs with presumably healthy eyes. It is not a comprehensive ocular health examination, but rather an eye screening exam for genetic eye abnormalities for breeding purposes, for breeders.

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Hip and Elbow Testing

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Hip and elbow testing is done on all of our breeding dogs through OFA hip or Penn hip. 

PennHip is a diagnostic test that was developed at the University of Pennsylvania by Dr. Gail Smith in the 1990s. It involves taking x-rays while the patient is very relaxed (i.e. sedated); three images are taken while stretching the hips to their full “loose” boundary, compressing the hips to their full “well-seated” boundary, and in a standard “lying on back” position to evaluate normal structural anatomy of the pelvis. With these views, we are able to measure (and quantitate with a number), how loose the hips actually are. We also are able to comment on the degree of boney changes of the hip structures that has resulted from hip looseness.

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OFA hips, The hip grades of excellent, good and fair are within normal limits and are given OFA numbers. This information is accepted by AKC on dogs with permanent identification and is in the public domain. Radiographs of borderline, mild, moderate and severely dysplastic hip grades are reviewed by a team of consultant radiologists and a radiographic report is generated documenting the abnormal radiographic findings.

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