Search results for: 'DOG-PRA-PRCD'

The B (brown) locus refers to different mutations in the TYRP1 gene causing the brown coat colour. In the Australian Shepherd, a specific mutation (b4) has been identified in addition to the classic mutations (bs, bd, bc) in the Locus-B test.

Alaskan Malamute Polyneuropathy (AMPN) is a genetic neuromuscular disorder. Symptoms may include exercise intolerance, muscle atrophy mainly in the hind legs, laryngeal paralysis resulting in a change in barking and noisy breathing. The first signs of the disease appear between the ages of 3 and 19 months.

Cleft lip with or without cleft palate is a genetic defect in craniofacial development causing communication between the mouth and nose. The most common symptoms are choking, coughing and difficulty swallowing. Syndactyly (fusion of fingers) may also be observed.

Miniature schnauzer polyneuropathy is a genetic neuromuscular disorder. Symptoms may include exercise intolerance, muscle atrophy mainly in the hind legs, laryngeal paralysis resulting in a change in barking and noisy breathing. The first signs of the disease usually appear around 3 months of age.

Cerebellar ataxia (NCL-A) is a genetic defect characterised by the accumulation of lipofuscin in the nervous system resulting in balance disorders, ambulation and uncontrolled muscle contractions. This test is licensed from INRA / ENVA.

Mucopolysaccharidosis VII is a lysosomal storage disease characterised by the accumulation of glycosaminoglycans in cells causing permanent cell damage. The first clinical signs are a shortened face, protruding ears and a broad chest. The condition progresses to corneal opacification, reduced growth, locomotor disorders, cardiac abnormalities and tracheal narrowing.

Spongy degeneration with cerebellar ataxia 1 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

Spongy degeneration with cerebellar ataxia 2 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

L-2-hydroxyglutaric aciduria is a genetic disease of the nervous system. The clinical signs are high levels of L-2-hydroxyglutaric acid in urine and plasma, seizures, wobbly gait, ataxia, tremors and muscle stiffness and usually appear from 6 months of age.

Progressive retinal atrophy is an inherited eye disease characterised by bilateral degeneration of the photoreceptor cells of the retina resulting in progressive vision loss leading to total blindness. Other mutations can cause progressive retinal atrophy. PRA1 accounts for more than 60% of diagnosed Golden Retrievers.