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NINDS Congenital Myasthenia Information Page

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Synonym(s):   Myasthenia - Congenital

Table of Contents (click to jump to sections)
What is Congenital Myasthenia?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations
Additional resources from MEDLINEplus

What is Congenital Myasthenia?
Congenital myasthenia is an inherited disorder that affects the transmission of signals to the muscles. It results from a variety of genetic defects at the molecules associated with neuromuscular transmission. Congenital myasthenia is not the same as myasthenia gravis, which is an autoimmune disorder. More than a dozen congenital myasthenic syndromes have been classified. Symptoms are usually noticed in early childhood and include drooping eyelids, facial weakness, and limb weakness. Parents of children with congenital myasthenia frequently show no symptoms of the disorder

Is there any treatment?

Anticholinesterase drugs, as well as guanidine and other drug therapy that facilitates neuromuscular transmission, may improve some symptoms of congenital myasthenia.

What is the prognosis?

Several cases of congenital myasthenia improve or stabilize with drug therapy. In other cases, therapy is not effective. Adverse respiratory reactions may occur as a result of drug therapy, but they can be treated.

What research is being done?

The NINDS supports research on neuromuscular disorders such as congenital myasthenia, aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them.

Select this link to view a list of studies currently seeking patients.

Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

 Myasthenia Gravis Foundation of America, Inc.
1821 University Ave W.
Suite S256
St. Paul, MN   55104-2897
mgfa@myasthenia.org
http://www.myasthenia.org
Tel: 800-541-5454 651-917-6256
Fax: 651-917-1835


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



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Last updated February 12, 2007