Dog

Neuronal ceroid lipofuscinosis is a genetic defect characterised by a visual deficit that progresses to complete blindness, as well as progressive anxiety, cognitive and motor degeneration and lack of coordination.

Neuronal ceroid lipofuscinosis is a genetic defect characterised by cognitive impairment, blindness and anxiety.

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.

Neonatal encephalopathy is a malformation of the cerebellum seen in poodles. Affected puppies are small at birth and do not develop normally. At the age of about 3 weeks, weakness, ataxia, tremors are observed. Affected puppies do not interact with the mother or other members of the litter and react slowly to external stimuli. They usually die or are euthanised before 7 weeks of age.

Osteogenesis imperfecta, also known as brittle bone disease, is characterised by extreme fragility of bones and teeth caused by an abnormal collagen structure.

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.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Neonatal interstitial lung disease is a genetic disease affecting the pulmonary system and causing lethal hypoxic respiratory failure in the first weeks of life. Other symptoms include lethargy, refusal to suckle and breathing difficulties ('dyspnea' or tachypnea).

Gangliosidosis is a genetic defect that causes the storage of GM1 gangliosides in various tissues. The clinical signs of the disease are progressive neurological dysfunction and growth retardation.