Late Onset Ataxia (LOA)
Code: H328
Short description
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physial coordination.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | CAPN1 |
| Chromosome | 18 |
| Mutation | c.344G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SCA |
Clinical features
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.
References
Pubmed ID: 23741357
Year published: 2013
Omia ID: 1820
Omia variant ID:
Turnaround information
- 15 working days