Dog

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.

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.

Junctional epidermolysis bullosa (JEB) is a recessive genetic disease of the skin and mucous membranes in which the epidermal layer is separated from the skin.

Juvenile laryngeal paralysis and polyneuropathy also known as polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a neurological defect seen in Black Russian Terriers and Rottweilers where the disease is known as neuronal vacuolation and neuronal vacuolation and spinocerebellar degeneration (NVSD). Signs of disease include early onset of laryngeal paralysis, microphthalmia (small eyes), cataract and muscle weakness. The disease is progressive and affected animals die or are euthanised

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.

Myotonia congenita is a genetic disorder characterised by delayed skeletal muscle relaxation after contraction. The clinical signs are a stiff gait and hypertrophy of the skeletal muscles.

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.

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.

Dwarfism is a slowing of growth. Pituitary dwarfism in German Shepherds produces perfectly proportioned but much smaller dogs. It is caused by a dysfunction of the pituitary gland which reduces the plasma concentrations of growth and thyroid hormones. This hormonal alteration usually results in malformations of the genitalia. These dogs can lead a normal life if they receive appropriate hormonal treatment.

Narcolepsy is a genetic disorder caused by a mutation in the orexin receptor. Affected dogs are sleepy and cannot stay awake for long periods. The first signs appear between 4 weeks and 6 months. Narcolepsy is not life-threatening.