MYOTONIA CONGENITA.

Abstract

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. T he condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. T he disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. T here are two forms of the disorder: Becker-type, which is the most common form; and T homsen’s disease, which is a rare and milder form. T he disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles. Qeios · Definition, November 11, 2019