Przegląd chorób o podłożu genetycznym przebiegających z objawami neurologicznymi
Startle disease
Startle disease or hyperekplexia is an inherited degenerative disease of the nervous system. The first symptoms are seen 5 to 7 days after birth and they include stiffness of extensor muscles and touch-induced tremors. The signs cease when an animal is relaxed and sleeps. Puppies are unable to stand when rigidity affects the extensor muscles in four limbs. In addition, cyanosis may develop during suckling. Affected dogs must be euthanized. Breed: irish wolfhund. Pattern of inheritance: autosomal recessive.
L-2-hydroxyglutaric aciduria (L-2-HGA)
L-2-hydroxyglutaric aciduria (L-2-HGA) in staffordshire bull terriers is a neuro-metabolic disease that is characterized by an elevated level of L-2-hydroxyglutaric acid in the urine, plasma and cerebrospinal fluid.
The disease causes severe disorders in the central nervous system. The first clinical symptoms are seen in dogs between 6 and 12 month of life yet it may also present in older animals. L-2-hydroxyglutaric aciduria induces variety pf neurological abnormalities such as psychomotor retardation, fits and ataxia. The other sings include wobbly gait, muscle stiffness seen post exercise or when an animal is excited as well as behavioural alterations. Breed: staffordshire bull terrier. Pattern of inheritance: autosomal recessive.
Krabbe disease (globoid cell leucodystrophy)
Krabbe disease (globoid cell leucodystrophy) is a lipid storage pathology that is accompanied by [...]
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