Overview
A number of tests are available for the English Setter. Two or more of these tests purchased as part of this bundle will be discounted.
- Degenerative Myelopathy associated with the SOD1 gene
- Neuronal Ceroid Lipofuscinosis 8 associated with the CLN8 gene
- Progressive Retinal Atrophy associated with the PCARE gene
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.
Neuronal Ceroid Lipofuscinosis 8 (CLN8)
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterised by brain and retinal atrophy. The lipopigment lipofuscin builds up in the neural cells and some organs, such as liver, spleen, kidneys etc. This storage causes neuronal loss, cortical atrophy, and cerebellar and retinal degeneration resulting in seizures, progressive deterioration of cognition (dementia), motor function impairment (involuntary movements, myoclonus, ataxia, spasticity) and blindness.
Affected dogs appear normal at birth but begin to exhibit clinical effects early in life – around 14-18 months of age, when reduced vision and mental dullness become apparent. 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.
Progressive Retinal Atrophy (PCARE)
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs; the retina detects light and sends images to the brain. Progressive degeneration of the retina at the back of the eye is characteristic of PRA and leads to vision loss and blindness. PRA is not painful to dogs, and the first signs of the disease tend to be bumping in to objects, such as a piece of furniture that has been moved. Mutations in different genes cause genetically different forms of PRA. It affects many different breeds of dog , but each genetically distinct form usually affects one or a small number of breeds.
Progressive retinal atrophy in the Gordon setter is caused by a mutation in a gene called PCARE (previously known as C2ORF71) and is indistinguishable from other forms of PRA in other breeds. It is also found in a number of other breeds. The average age of onset of clinical signs is quite late, around 10 years, but can be anything between 5 and 12 years. In humans, mutations in PCARE are associated with a condition known as Retinitis Pigmentosa, symptoms of which include loss of peripheral vision and the ability to see at night. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in PCARE will prevent further spread of this blinding condition in this lovely breed.
