Congenital Myasthenic Syndrome (CMS) – Old Danish Pointer
Kodas: H425
Short description
Congenital myasthenic syndrome (CMS) is a hereditary neuromuscular disorder characterised by severe generalized skeletal muscle weakness and fatigue, usually it manifests itself with exertion.
General information
Congenital myasthenic syndrome (CMS) is a hereditary neuromuscular disorder characterised by severe generalized skeletal muscle weakness and fatigue, usually it manifests itself with exertion.
Specifications
| Breeds | |
|---|---|
| Gene | CHAT |
| Chromosome | 28 |
| Mutation | c.85G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMS |
Clinical features
Affected dogs are able to run normally for 5–30 min after which they take shorter and shorter strides and eventually fall down with flexed fore- and hindlegs. After some minutes rest, they are able to walk and run again for variable periods of time before the signs reappear.
References
Pubmed ID: 17586598
Year published: 2007
Omia ID: 2072
Omia variant ID:
Turnaround information
- 10 working days