Congenital myotonia

Congenital myotonia, also known as Thomsen disease, is a type of hereditary myopathy characterized by myotonia and hypertrophy. Divided into autosomal dominant (AD) and recessive (AR) heredity, more common in the proximal muscles of the limbs, eyelids and tongue. Congenital myotonia was first reported by Charles Bell (1832) and Leyden (1874). The Danish doctor Thomsen (1876) described in detail the disease of 20 members of 4 generations in himself and his family. "Myotonic analgesic spasm, with hereditary mental disorder," mental disorders may only be accidental.