Search results for: 'DOG-PRA-PRCD'

Cerebellar degeneration—myositis complex is a degenerative encephalopathy. Clinical signs in affected dogs are highly variable and may include muscle weakness, generalized ataxia and hypermetria. The age of onset of neurological signs is between 10 weeks and 6 months.

Ichthyosis type 2 is a skin condition caused by keratin dysfunction. The skin of affected dogs is dry, thick, scaly with large skin scales. 

In addition to the genetic test available for this form, a specific test is also available for ichthyosis type 1.

Dental hypomineralisation, also known as Raine's syndrome, is a condition that causes hypomineralisation of teeth and bones. Affected dogs show severe tooth wear, pulpitis, and as a result most teeth need to be extracted. The symptoms are hypomineralisation of the teeth and weakening of the enamel.

Familial nephropathy (FN) is a genetic disease affecting the kidneys. Dogs with this disorder develop progressive kidney failure leading to death. The first symptoms usually appear between 6 months and 2 years of age and include excessive water consumption, weight loss, decreased appetite, diarrhea and vomiting.

Neurons are covered by a myelin sheath, in dogs with hypomyelination, the thickness of this sheath is reduced. The first symptoms are observed from the age of 1 to 2 weeks and include tremors and balance disorders. In most cases, the symptoms resolve after 3-4 months of age.

Multifocal retinopathy is an eye disease with symptoms appearing between 11 and 16 weeks of age. Affected dogs have multiple circular areas of retinal detachment. Fluid accumulates under the detached retina, resulting in blistering of the eye. The disease progresses slowly and does not usually lead to blindness.

Spastic ataxia is a neurological disease described in the Great Pyrenees. It is characterized by degeneration of the central nervous system associated with peripheral nerve involvement. Clinical signs often begin as early as 4 months of age. Affected dogs show loss of coordination (ataxia) and progressive muscle stiffness. The condition progresses slowly over several years.

Ichthyosis, also known as autosomal recessive congenital ichthyosis (ARCI), is a non-inflammatory skin disease characterised by flaky or scaly skin. Clinical signs appear in puppies as early as 1 to 2 weeks of age. Affected dogs have a sticky, oily, yellowish substance around the eyes and ears. In severe cases, puppies are usually euthanised.

Glycogen storage disease is a severe genetic disorder of glycogen metabolism, causing glycogen accumulation mainly in the liver. Affected dogs show severe hepatomegaly, fasting hypoglycemia, failure to thrive, and may progress to coma and death.
The G6PC gene mutation strongly reduces enzyme activity, disrupting the production of glucose from glucose-6-phosphate.
Histologically, the liver shows vacuolated hepatocytes filled with glycogen.

The curly coat is caused by a mutation in the Keratin-71 (KRT71) gene. The test can be performed for any breed but is particularly relevant for the following breeds: Airedale Terrier, Bichon Frise, Havanese, Maltese, Border Collie, Chesapeake Bay Retriever, Chihuahua, Dachshund, Leonberger, Portuguese Water Dog, Welsh Terrier, Wire Fox Terrier. This test is not valid for the Golden Retriever.