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H328

Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physial coordination.

10 Arbeidsdager

Spesifikasjoner

Breeds

,

Gene

Organ

specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease. This variant of the disorder, found in the Parson Russell Terrier, is caused by a recessive mutation to the gene CAPN1.

Kliniske egenskaper

The chief symptom of SCA is uncoordinated gait (ataxia) with characteristic “dancing" or “prancing” leg movements. Clinical signs usually become notable between 6 and 12 months of age. Especially during the initial months of disease, the degree of truncal ataxia, pelvic limb hypermetria (overreaching with the hind legs) and impaired balance is progressive. During the later stages of the disease walking often becomes difficult. On humane grounds, owners of affected dogs often opt for euthanasia.

Tilleggsinformasjon

Referanser

Pubmed ID: 23741357

Omia ID: 1820

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