Search results for: 'DOG-PRA-PRCD'

Skeletal dysplasia type 3 is an inherited condition described notably in the Vizsla, associated with a variant in the PCYT1A gene. It primarily results in reduced shoulder height in homozygous dogs, with notable individual variability. The skeletal abnormalities mainly affect the limbs, with shortened, thickened, and deformed bones visible on imaging. Despite these structural changes, affected dogs do not consistently show obvious clinical signs in the short term. However, long-term monitoring is recommended to assess potential orthopedic consequences with age.

Benign familial juvenile epilepsy is a disease in which clinical signs appear between 5 and 12 weeks of age. Affected dogs exhibit convulsions characterised by generalised tremors, ataxia and stiffness.

Dogs with POAG have elevated intraocular pressure leading to loss of vision and usually to lens luxation (PLL). The first symptoms usually appear between 4 and 6 years of age.

Neuro-axonal dystrophy (NAD) in Papillon dogs is a rare inherited neurological disorder that causes progressive degeneration of the central nervous system.
Signs appear very early, usually between 2 and 4 months of age, and include gait abnormalities, head and limb tremors, weakness of the hind limbs, and in some cases, involvement of the forelimbs or visual deficits.
The progression is rapid and severe: affected dogs may have difficulty eating and are often euthanized shortly after the onset of symptoms due to a reserved vital prognosis.

Cataracts are one of the leading causes of blindness in dogs. This test highlights a mutation in the HSF4 gene that is considered a risk factor for the development of cataracts.

Landseers with Ullrich-type muscular dystrophy show general muscle weakness. The first symptoms appear in the first months of life, and these dogs are euthanised or die before the age of two.

Cataracts are one of the leading causes of blindness in dogs. This test highlights a mutation in the HSF4 gene that is considered a risk factor for the development of cataracts.

Multifocal CMR3 retinopathy is a genetic disease that causes multiple tears and detachments of the retina. In mild cases, the dog often shows no vision problems despite the abnormal appearance of the retina.

Long hair is caused by mutations in the fibroblast growth factor-5 (FGF5) gene. To date, five mutations have been identified. The longhair test identifies the p.Cys95Phe mutation, which is the most common across breeds. The shorthair allele (L) is dominant over the longhair allele (l), so two copies of the longhair allele are required to produce longhaired dogs. The specific test for the Akita breed is available: see Longhair test - Akita (DOG-LHA)

Multifocal CMR3 retinopathy is a genetic disease that causes multiple tears and detachments of the retina. In mild cases, the dog often shows no vision problems despite the abnormal appearance of the retina.