Congenital myasthenic syndrome (CMS)
Congenital myasthenic syndrome (CMS)
General description
The congenital myasthenic syndrome shows generalized amyosthenia particularly following stress or agitation. Affected cats often exhibit a “squirrel”-like posture and rest their front paws on elevated objects.
Breeds
Devon Rex, Sphynx
Order details
| Test number | 8592 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Age of onset | 3 weeks |
| Causality | causally |
| Gene | COLQ |
| Mutation | C-T |
| Literature | OMIA:001621-9685 |
Detailed description
The congenital myasthenic syndrome is caused by a mutation located in the COLQ-gene. Symptoms of the disease correlate to human CMS and are described as generalized amyosthenia particularly following stress or agitation. First symptoms appear at three weeks of age. Affected cats often exhibit a “squirrel”-like posture and rest their front paws on elevated objects. Almost all cats with CMS die during their first two years of life. Most of those cats suffocate while feeding.
