The genetic disorder, prcd-PRA , causes cells in the retina at the back of the eye to degenerate and die, even though the cells seem to develop normally early in life. The “rod” cells operate in low light levels and are the first to lose normal function. Most affected dogs will eventually be blind. Typically, the clinical disease is recognized first in early adolescence or early adulthood, and unfortunately, at this time there is no treatment or cure for PRA.
Familial nephropathy (FN) is a type of hereditary kidney disease that leads to renal failure in affected dogs, usually at a young age. It is relatively widely spread across the English cocker spaniel dog breed, with just over 10% of English cockers in the UK carrying the gene mutation that leads to the condition.
Generally, dogs affected with the condition will go into irreversible renal failure by the time that they reach the age of two, which cannot be cured and ultimately proves fatal
Acral Mutilation Syndrome (AMS)
Acral Mutilation Syndrome (AMS) is an inherited sensory neuropathy disorder affecting several sporting breeds. The disease is characterised by insensitivity to pain in the feet ( acral analgesia ) which can be associated with sudden and intense licking, biting and severe self-mutilation of the feet, while proprioception, motor abilities and spinal reflexes remain intact.
Affected puppies look smaller than their healthy littermates.
Symptoms maybe followed by further complications such as infections, ulceration, nail loss, swollen paws and fractures.
Age of onset: 3-12 months
Degenerative Myelopathy (DM)
Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia. Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
Exercise-Induced Collapse (EIC)
Dogs clinically affected by EIC will show signs of leg weakness followed by complete collapse after 5 to 20 minutes minutes of strenuous activity. The severity can vary. Severely affected dogs may collapse with mild exercise - other dogs only exhibit collapse episodes sporadically (occurring at irregular intervals). First clinical signs are usually noticed between 5 months and 3 years of age, but can appear later in life.
Glycogen Storage Disease VII (Phosphofructokinase deficiency)
GSDII is caused by an enzyme deficiency that leads to abnormal glucose levels in tissues such as cardiac (heart), skeletal and smooth muscle.
Clinical signs of affected dogs usually occur around 7 months of age and include vomiting, regurgitation, progressive muscle weakness, exercise intolerance and heart problems. Affected dogs usually die around 1½-2 years of age
Neonatal encephalopathy with seizures (NEWS)
Neonatal encephalopathy with seizures is an autosomal recessive developmental brain disease. Affected puppies exhibit extreme weakness, those that survive the first week of life generally develop progressively worse ataxia and a whole-body tremor. This is often accompanied by severe generalized clonic-tonic seizures. None have survived to 7 weeks of age. ´The mutation that is suggested to be responsible for NEWS in standard poodles can be detected via DNA-testing.
OC is a severe form of dwarfism that is a result of an abnormal development of cartilage and bone.
Clinical signs usually appear in puppies at around 3 weeks. Effects usually include stunted growth and abnormal movement. The puppy's limbs, jaws and rib cage may be abnormal. Many affected puppies are euthanised as joint stiffness is severe in young dogs. While such joint stiffness lessens as the dog matures, mobility may be restricted due to physical abnormalities and affected adult dogs are at increased risk of osteoarthritis.
Von Willebrand Disease I (VWD1)
The condition is caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF), a protein that plays a central role in blood clotting. Von Willebrand's disease vWD usually comes in three types, type I, type II and type III. Type III is a severe bleeding disorder with a high risk of spontaneous bleeding as well as a risk of serious bleeding from trauma and surgery. Type I is a less severe form.
Dogs with vWD are prone to nose bleeds, bleeding from the gums, and prolonged bleeding during heat or after whelping. There may be prolonged bleeding from the umbilical cord at birth or when the pup sheds its baby teeth. Excessive bleeding after surgery or trauma is common, and may be the first sign of this condition in your dog. You may see blood in your dog's urine or stool. The clinical effects reported can range dramatically, with some dogs bleeding profusely, while others hardly showing any signs of bleeding at all.
All of the conditions listed above are inherited as a recessive trait. This means a disease gene must be inherited from BOTH parent in order to cause disease in an offspring. Parents must both be either “carrier” or ''affected'' by the diseases in order for either to be passed on. A ''carrier'' is a dog which has one disease gene and one normal gene, meaning he or she is NOT affected, but he could pass it on to his offspring depending on the breeding partner. A clear dog has no disease gene and is termed “homozygous normal” or ''Double Clear'' this means both copies of his or her gene are same, and therefore no puppies produced by this dog can ever be affected. A dog with two disease genes is termed “affected” – both copies of the gene are abnormal and the dog it's self will suffer from the effects of the disease being carried.
Inherited diseases can be avoided in future generations by testing dogs before breeding. Identification of dogs that do not carry any diseased genes is the key. These "clear" dogs can be bred to any mate (even to an affected dog, should there be a particular reason for doing so) and the resulting puppies can never be 'affected' by the condition and would be safe to breed back to another 'clear' mate.