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NINDS Myotonia Congenita Information Page

Synonym(s):   Thomsen's Myotonia, Becker's Myotonia

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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 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.  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 and also supports additional research through grants to major research 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. 

NIH Patient Recruitment for Myotonia Congenita Clinical Trials

Organizations

Column1 Column2
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ   85718-3208
mda@mdausa.org
http://www.mda.org
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 30, 2011