A number of test are available for English Springer Spaniels. Two or more of these tests purchased as part of this bundle will be discounted.
- Acral Mutilation Syndrome (GDNF-type)
- Phosphofructokinase Deficiency (Spaniel type)
- Progressive Retinal Atrophy (CORD1-type)
- Fucosidosis associated with the FUCA1 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.
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.
Progressive Retinal Atrophy (CORD1-type)
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).
Fucosidosis is a lysosomal storage disease which results from the enzyme alpha-L-fucosidosis being defective or absent. This results in the impaired breakdown, and therefore accumulation of complex sugars, primarily in cells of the nervous system. Unfortunately, the disease is progressive and fatal. Affected dogs typically present with symptoms between the ages of 11 months and four years. Clinical signs observed include ataxia (wobbly gait), loss of balance, hearing problems, loss of learned behaviour, difficulty swallowing and weight loss.