Progressive Retinal Atrophy ( prcd-PRA )
This is an inherited disease that occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.
Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.
Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population
Familial Nephropathy ( FN )
The Familial or Hereditary Nephropathy (FN) is a juvenile-onset fatal kidney disease in English Cocker Spaniels. The renal disease caused by FN invariably is progressive and ultimately fatal. Dogs with FN typically develop chronic renal failure between 6 month and 2 years of age, with eventual and sometimes rapid destruction of both kidneys. The first clinical signs are excessive water consumption, growth rate or loss in weight, reduced appetite, and vomiting.
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 may be followed by further complications such as infections, ulceration, nail loss, swollen paws and fractures.
Gallbladder Mucocele ( GBM )
Gallbladder Mucocele is an abnormally distended gallbladder containing a build-up of luminal mucus leading to inflammation (cholecystitis) and possible rupture of the gallbladder. Symptoms include vomiting, jaundice, loss of appetite, lethargy, polyuria, polydipsia, and diarrhea. The trait of inheritance is autosomal dominant with incomplete penetrance, which means that only one copy of the mutation can put the dog at risk of developing the disease, however, not all dogs with one copy of the mutation have developed the disease.
Macrothrombocytopenia ( MTC – D )
Macrothrombocytopeniais inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation. Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.
It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder. (TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC).
Degenerative Myelopathy ( DM (Exon 2)
Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. 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.
Hyperuricosuria / Urate Stones ( HUU, SLC )
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys.
Malignant hyperthermia ( MH )
Malignant hyperthermia is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anaesthetic agents. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome.