Synonyms: Thomsen’s Myotonia, Becker’s Myotonia
What is Myotonia Congenita ?
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present since 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. The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
Is there any treatment?
Most people with myotonia congenita don’t require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.
What is the prognosis?
Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita in its clinics and laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.