What is CMS – Spasticity ?
CMS is also known as Congenital Myasthenic Syndrome.
Cats affected by CMS generally dead at two years old by asphyxiation or pneumonia.
First disease signs can be observed at 3 weeks old and progress slowly. Symptoms are muscle weakness, especially after exertion, stress or excitement.
Predisposition according to the races
CMS test is only available for Sphynx and Devon Rex breeds.
Realization of the genetic test
The DNA test for detection of CMS – Spasticity can be performed from 6 to 8 weeks. Like all genetic tests, this test is very reliable.
The test is usually performed from a buccal swab, fast and easy to perform.
- Buccal swab
- Blood in EDTA tube
- Blood in dry tube
Understanding results of the test : CMS - Spasticity - Sphynx
Gene Mutation : COLQ c.1190G>A
Heredity : autosomal recessive (more information)
Penetrance : complete (more information)
|Test result||CMS - Spasticity - Sphynx status (COLQ c.1190G>A)||Health status|
|N/N||No copy of the CMS mutation||Animal is normal (clear)|
|N/CMS||1 copy of the CMS mutation||Animal is normal (clear)|
|CMS/CMS||2 copies of the CMS mutation||Animal is, will or could be affected|
Cross table of the test : CMS - Spasticity - Sphynx
|Mother N/N||Mother N/CMS||Mother CMS/CMS|
|Father N/N||100% N/N||50% N/N|
|Father N/CMS||50% N/N|
|Father CMS/CMS||100% N/CMS||50% N/CMS|
Certificate example for the test : CMS - Spasticity - Sphynx
Click on the example certificate below to open it.
Gandolfi, Grahn, Creighton et al. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet. 2015 Dec;46(6):711-5.
Abitbol, Hitte, Bossé,et al. A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One. 2015 Sep 1;10(9)