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 number8461
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmuscular
Causalitycausally
GeneCLCN1
MutationG-T
LiteratureOMIA: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.