Congenital Myasthenic Syndrome (CMS) – Jack Russell Terrier
Code: H626
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Short description
Congenital Myasthenic Syndrome (CMS) is a neuromuscular disorder.
General information
Congenital Myasthenic Syndrome (CMS) is a neuromuscular disorder. The causative mutation causes reduced presynaptic acetylcholine synthesis. These dogs have normal amounts of acetylcholine receptors and no detectable antibodies against acetylcholine receptors.
Specifications
| Breeds | |
|---|---|
| Gene | CHRNE |
| Chromosome | 5 |
| Mutation | c.633_634insC |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMS |
Clinical features
Dogs with CMS can run normally for up to 30 minutes. After that the strides become smaller and they can fall down with flexed legs. After some rest the signs disappear, but will come back if they start to run again.
References
Pubmed ID: 26429099
Year published: 2015
Omia ID: 685
Omia variant ID:
Turnaround information
- 15 working days