Catalog

Myotonia congenita, dominant

No MMS code

Link to WHO Definition

Myotonia congenita, dominant – http://id.who.int/icd/entity/370025964

Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction.