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Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination. This variant of the disease, known simply as Spinocerebellar Ataxia 2 (SCA2), is found in the Alpine Dachsbracke. It is caused by a recessive mutation to the gene SCN8A.
Clinical features
Signs of cerebellar dysfunction become apparent in affected puppies at approximately three weeks of age. Symptoms include ataxia (loss of physical coordination), loss of balance, tremors, falling and impaired vision. The disease is severe, and euthanasia on humane grounds is typically necessary by the age of 12 weeks.
Additional information
References
Pubmed ID: 31083464
Omia ID: 2194
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