Search results for: 'DOG-PRA-PRCD'

Centronuclear myopathy is a genetic disease affecting the muscles and characterized by progressive muscle atrophy and exercise intolerance. The first clinical signs appear around 6 months of age.

Cyclic neutropenia is a stem cell disease resulting in cyclic variation in the number of circulating neutrophils. The clinical signs of cyclic neutropenia are fever, diarrhoea, joint pain and respiratory, eye and skin infections. 

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Leukocyte Adhesion Deficiency is an abnormality of the immune system. Due to the mutation, the leukocytes do not destroy bacteria and viruses leading to the death of affected puppies.

Neural ceroid-lipofuscinosis is a genetic defect characterised by progressive behavioural changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness and slow responses to pupillary light.

Polyneuropathy type 1 (LNP21) is a progressive neuromuscular disease characterised by generalised weakness, hypotonia, laryngeal paralysis and muscle atrophy, particularly of the hind limbs. The age of onset of symptoms can vary between 1 and 11 years.

Autoinflammatory Shar-Pei Disease (AISD) is a genetic disorder characterized by recurrent episodes of fever and inflammation with no known cause. The most common symptoms are fever, arthritis, vesicular hyaluronosis, otitis and amyloidosis.

Pyruvate dehydrogenase is an important enzyme for the production of energy by cells. Pyruvate dehydrogenase deficiency is therefore characterised by an intolerance to effort and lactic acidosis. Neurological complications are possible.

In puppies with CHG, thyroid function is reduced. The main symptoms are enlarged thyroid glands, goiter and growth retardation. The first clinical signs appear a few weeks after birth.

Imerslund-Gräsbeck syndrome is characterised by malabsorption of vitamin B12 (cobalamin). The first symptoms appear around 6 to 12 weeks. The clinical signs are due to the lack of cobalamin which causes megaloblastic anaemia and neurological symptoms.