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Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physial coordination.
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Specifiche
| Razza | |
|---|---|
| Organo | |
| Gene | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | 18 |
| Tipo di Ereditarietà | SCA |
| Anno di pubblicazione |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 23741357
Omia ID: 1820