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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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Caractéristiques
| Breeds | Smooth Fox Terrier, Teckel, Jack Russell Terrier, Parson Russell Terrier |
|---|---|
| Gene | |
| Chromosome | 38 |
| Mutation | c.627C>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | SDCA1; SCA |
Informations générales
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination. This variant of the disease, occurring in the Jack Russell Terrier and related Russell-group terriers, as well as the Dachshund, is caused by a recessive mutation to the gene KCNJ10.
The disease occurs with varying combinations of myokymia, seizures, and other signs of neurologic diseases.
Caractéristiques cliniques
Affected dogs showed muscle twitches (myokymia) and some dogs developed seizures. The disease is juvenile-onset, with symptoms starting at approximately 3 to 8 months of age.
Additional Information
Références
Pubmed ID: 24708069
Year published: 2014
Omia ID: 2089
Omia variant ID: 945