Search results for: 'DOG-PRA-PRCD'

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.

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.

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.

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.

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

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.

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.

Neuronal ceroid lipofuscinosis is a genetic defect whose first clinical signs usually appear before the age of 2 years and include hypermetriosis, dysmetria, paraparesis, ataxia and progressive psychomotor degeneration. Unlike many other NCLs, American bulldogs with NCL10 do not show signs of brain dysfunction or blindness.

Phosphofructokinase deficiency is an inherited glycogen storage disease. Without the enzyme phosphofructokinase, muscle cells and red blood cells are not able to produce enough energy to meet their needs. Clinical signs are weakness, lethargy, exercise intolerance and anaemia.

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.