Overview
A number of tests are available for the American Cocker Spaniel. Two or more of these tests purchased as part of this bundle will be discounted.
- Chondrodysplasia (CDPA) associated with the FGF4 -18 retrogene insertion
- Chondrodystrophy (CDDY) with risk of IVDD associated with the FGF4-12 retrogene insertion.
- Degenerative Myelopathy associated with the SOD1 gene
- Phosphofructokinase Deficiency associated with the PFKM gene
- Progressive Retinal Atrophy associated with the PRCD gene
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.
Degenerative Myelopathy
Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.
Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.
Phosphofructokinase Deficiency (Spaniel type)
Phosphofructokinase (PFK) is an enzyme that is involved in the use and regulation of glucose as an energy source. Disruption of the PFKM gene can result in a PFK deficiency that leads to muscles that fatigue very easily, because they cannot use energy very efficiently. Affected dogs display muscle weakness, an inability to exercise properly, or muscle cramping. Characteristic of the disease is a brown discolouration of urine, caused by the excretion of the muscle breakdown product myoglobin in the urine.
There is no cure for PFK deficiency and treatment is supportive and to minimise long-term damage.
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.
