Congenital Myasthenic Syndrome (CMS) – Cat
Kodas: K400
Short description
Congenital Myasthenic Syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders.
General information
Congenital Myasthenic Syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders. A causal mutation in the COLQ gene affects acetylcholinesterase, an enzyme that terminates signal transduction at the neuromuscular junction.
Specifications
| Breeds | |
|---|---|
| Gene | COLQ |
| Chromosome | C2 |
| Mutation | c.1190G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | limb-gridle |
Clinical features
Cats with Congenital myasthenic syndrome (CMS) have a congenital muscle weakness. Cats show evidence of generalized muscle weakness, particularly following exertion, stress, or excitement. Characteristic positions as “dog-begging” or “chipmunk”, usually with their front legs resting on a convenient object can be shown. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible. Occasionally the symptoms become static.
References
Pubmed ID: 26327126,26374066
Year published: 2015
Omia ID: 1621
Omia variant ID:
Turnaround information
- 10 working days