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
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.
Return to top
Last updated February 12, 2007
