Overview
A number of test are available for English Cocker Spaniels. Two or more of these tests purchased as part of this bundle will be discounted.
- Acral Mutilation Syndrome (GDNF-type)
- Chondrodysplasia (CDPA) associated with the FGF4 -18 retrogene insertion
- Chondrodystrophy (CDDY) with risk of IVDD associated with the FGF4-12 retrogene insertion.
- Familial Nephropathy associated with the COL4A4 gene
- Paradoxical pseudomyotonia associated with the SLC7A10 gene
- Progressive Retinal Atrophy associated with the CORD1 gene
- Progressive retinal atrophy associated with the PRCD gene
- Retinal Dysplasia associated with the NDP gene
Acral Mutilation Syndrome (GDNF-type)
Acral mutilation syndrome is a rare condition in some sporting dogs breeds. The hallmarks of the disease are loss of pain sensation, which results in dogs slowly but progressively over-grooming (licking) or biting their pads and paws leading to bleeding and ulceration. This in turn leads to bacterial and fungal infections and in many cases ulcers. Symptoms naturally occur in puppies around 4 months old.
Chondrodysplasia (CDPA)
Chondrodysplasia (CDPA) is shortened long bones, resulting in dogs with short legs.
A partial copy of the FGF4 gene has been inserted (FGF4-18, a retrogene insertion) on chromosome 18 and is associated with CDPA. Evidence that suggests that any dog with one or two copies of FGF4-18 will have short legs. Unlike CDDY, CDPA is not associated with any disease.
Chondrodystrophy (CDDY) with risk of IVDD
Chondrodystrophy (CDDY) in dogs is defined by dysplastic (abnormal), shorted long bones (short legs) and premature degeneration and calcification of intervertebral discs. Chondrodystrophic breeds are prone to a type of disc degeneration called chondroid metaplasia, where the discs become hardened and less able to flex with movement and therefore more prone to bulging or rupture i.e. Intervertebral Disk Disease (IVDD). The calcified inner disc material also puts pressure on the spinal cord, causing pain and damage to the nerves running through the spinal cord. Dogs may suffer from severe pain, inability to urinate or defecate, paralysis and even death. Many affected dogs are treated by surgically removing the prolapsed disc.
A partial copy of the FGF4 gene has been inserted (FGF4-12, a retrogene insertion) on chromosome 12 and is associated with CDDY. Evidence that suggests that any dog with one or two copies of FGF4-12 will be affected with CDDY, will have short legs and will be predisposed to IVDD. However, not all dogs with FGF4-12 will go on to develop IVDD.
Familial Nephropathy
Familial Nephropathy (Cocker Type), is a hereditary kidney disorder that affects Cocker Spaniels and related breeds. This condition leads to the progressive and ultimately fatal deterioration of the kidneys. Dogs with FN typically develop chronic renal failure between the ages of 6 months and 2 years, resulting in the destruction of both kidneys.
The first signs of FN include increased water consumption, changes in growth rate or weight loss, reduced appetite, weakness, fatigue and vomiting. In affected dogs, there is a defect that allows protein from the blood to be filtered by the kidneys and excreted in the urine, leading to abnormal levels of protein in the urine, usually detectable between 4-6 months of age. Subsequently, symptoms of chronic kidney disease manifest a few months after the presence of excessive protein in the urine is observed. Sadly, affected dogs typically succumb to chronic kidney failure by the age of one to two years.
Paradoxical pseudomyotonia
Paradoxical pseudomyotonia is a muscular disorder characterised by exercise-induced generalised myotonic-like episodes of variable severity – muscles take longer to relax (remain stiff) after voluntary contraction. When having an episode dogs experience the sudden onset of muscle stiffness, causing them look like they are “running in a computer game”, get “stuck” while climbing or performing small jumps. Signs of the condition are first observed between three months and 2 years of age. Episodes vary in frequency but can occur up to 15 times per day in some cases. They usually last for a few minutes and resolve with rest. Severity and frequency tend to remain stable or decrease with age, and episodes can be decreased or eliminated by avoiding triggers (usually strenuous exercise).
Progressive Retinal Atrophy (CORD1)
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
In most knowns forms of PRA the rod cells of the retina degenerate first, resulting in a loss of dim light vision initially. In this specific form of PRA the cone cells of the retina degenerate first, followed by the rod cells (cone rod dystrophy), so dogs affected with CORD1 do not develop night blindless first. As with all dogs suffering from PRA, there is no cure. Dogs generally adapt quite well to blindness – especially when it develops gradually – as long as their surroundings remain familiar (e.g. furniture does not get rearranged, they do not move house etc).
The age of onset of CORD1 is highly variable. Dogs the are also homozygous for the MAP9 modifier mutation will develop the disease from a young age (< 3 years old). On the other hand, dogs that are homozygous for the CORD1-RPGRIP1 variant but not the MAP9 variant may develop the disease later in life (> 6 years old).
Progressive retinal atrophy (PRCD type)
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Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
Progressive Rod Cone Degeneration (PRCD) is a form of PRA and was one of the first PRAs for which a genetic variant was identified. PRCD is different than most forms of PRA in that the variant has been found in a large number and diverse range of breeds.
Retinal Dysplasia
Retinal dysplasia (RD) is caused by abnormal development of the layer of cells at the back of the eye, the retina, which means that an affected dog’s vision can be affected from when the eyes first open. It has been described in multiple dog breeds and can be subdivided into focal, multifocal, geographic and total retinal dysplasia types. Total RD has been identified in English Cocker Spaniels.
