Congenital myasthenic syndrome / CMS / limb-girdle muscular dystrophy (COLQ-related) - Cat

CMS and inherited muscle weakness in Devon Rex and Sphynx

This genetic test analyses the COLQ variant c.1190G>A in cats. The condition is described as congenital myasthenic syndrome (CMS), hereditary myopathy, limb-girdle muscular dystrophy or dystroglycanopathy-type muscle disease.

COLQ is important for normal acetylcholinesterase function at the neuromuscular junction. Affected cats develop congenital muscle weakness, fatigue after activity or excitement, abnormal posture, difficulty moving and sometimes worsening signs during the first months of life.

Practical value of this test

• Shows whether a cat is clear, a carrier or genetically affected for the tested COLQ variant.
• Helps Devon Rex and Sphynx breeders avoid at-risk combinations.
• Provides clear information in lines where muscle weakness, myopathy or CMS is known.

The condition is autosomal recessive. Cats with two copies of the variant are genetically affected; carriers can pass the variant on without typically being affected themselves.