NINDS Myotonia Congenita Information Page: NINDS

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Article title: NINDS Myotonia Congenita Information Page: NINDS
Main condition: Myotonia Congenita
Conditions: Myotonia Congenita

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What is Myotonia Congenita?
Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise.

Is there any treatment?
Most cases of myotonia congenita do not require treatment. Sometimes, however, symptoms of the disorder may be relieved with quinine, phenytoin and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may be used to help muscle function. Genetic counseling is available.

What is the prognosis?
Most cases of myotonia congenita are nonprogressive and relatively nonlimiting. A precise diagnosis allows physicians to distinguish mild myotonia congenital (also called Thomsen type) from the more severe form, called Becker type.

What research is being done?
The NINDS supports research on genetic disorders such as myotonia congenita. The goals of these studies are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.

 Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

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

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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