Tags: Disease.
Congenital myotonia (also myotonia congenita) (Myo- from Greek; muscle and Tonus from Latin; tension) is a genetic neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). The disease was first described by Danish/German physician Julius Thomsen in 1876 who himself suffered from the disease. The hallmark of the disease is the failure of initiated contraction to terminate often referred to as delayed relaxation of the muscles (myotonia) and rigidity.