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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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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. 

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. 

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.

Research

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. 

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

Muscular Dystrophy Association

Voluntary health agency that fosters neuromuscular disease research and provides patient care funded almost entirely by individual private contributors. MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases.

3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

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