Congenital Myasthenic Syndrome (CMS) – Heideterrier
Code: H391
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. This variant of the disorder is caused by a recessive mutation to the gene CHRNE, and is found in the Heideterrier. A closely related variant occurs in the Jack Russell Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | CHRNE |
| Chromosome | 5 |
| Mutation | c.1508dup |
| 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: 28508416
Year published: 2017
Omia ID: 685
Omia variant ID:
Turnaround information
- 15 working days