Spinocerebellar Ataxia (SCA) – Terrier Type
Kodas: H303
Short description
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination.
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, 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.
Specifications
| Breeds | Smooth Fox Terrier, Dachshund, Jack Russell Terrier, Parson Russell Terrier |
|---|---|
| Gene | KCNJ10 |
| Chromosome | 38 |
| Mutation | c.627C>G |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SDCA1; SCA |
Clinical features
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.
References
Pubmed ID: 24708069
Year published: 2014
Omia ID: 2089
Omia variant ID:
Turnaround information
- 10 working days