Alternative titles and symbols : Thomsen disease; THD;
Included titles and symbols : Myotonia levior;
Description : Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder
characterized by muscle stiffness and an inability of the muscle to relax after voluntary
contraction (Sun et al., 2001). Thomsen disease is less common and less severe than
Becker disease. See also paramyotonia congenita (PMC; 168300) and potassium-aggravated
myotonia (608390), overlapping phenotypes caused by mutations in the SCN4A gene (603967).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, 118425.0002);