Myotonia congenita
Myotonia congenita
General description
Myotonia congenita (MC) is characterized by inability of the muscle to relax after voluntary contraction. Affected cats have a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. Additionally, these cats show a short-strided gait, problems while swallowing and excessive salivation.
Order details
Test number | 8461 |
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 |
Causality | causally |
Gene | CLCN1 |
Mutation | G-T |
Literature | OMIA:000698-9685 |
Detailed description
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax after voluntary contraction. Affected cats have a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. Additionally, these cats show a short-strided gait, problems while swallowing and excessive salivation.