Overview
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)
- 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
- Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) associated with the EHBP1L1 gene
- Familial Nephropathy associated with the COL4A4 gene
- Fucosidosis associated with the FUCA1 gene
- Paradoxical pseudomyotonia associated with the SLC7A10 gene
- Phosphofructokinase Deficiency (Spaniel type)
- Progressive Retinal Atrophy (CORD1-type)
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.
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.
Dyserythropoietic Anemia and Myopathy Syndrome (DAMS)
Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) is an inherited disease affecting the English Springer Spaniel. Symptoms of this early onset condition include muscle spasm and tightening of jaw, difficulties in swallowing, muscle atrophy, and progressive weakness. Affected dogs exhibit reduced activity, exercise intolerance, and regurgitation from puppyhood.
Additional clinical signs may include difficulties in mouth movement, lapping water, as well as aspiration pneumonia, seizures, and chronic diarrhoea. From birth, affected puppies experience stunted growth and poor muscle development compared to their littermates. As they age, they face challenges in swallowing food and water, resulting in regurgitation due to megaesophagus, alongside muscle loss, heart disease, and anemia. Given the progressive nature of this disease and its impact on the quality of life, most dogs afflicted with DAMS are euthanized as young adults or in middle age.
Familial Nephropathy (Springer type)
Familial Nephropathy (FN), is a hereditary kidney disorder that affects English Springer Spaniels. 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.
Fucosidosis
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.
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).
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).
