Congenital Myasthenic Syndrome with Episodic Apnea

Common Name(s)

Congenital Myasthenic Syndrome with Episodic Apnea, Familial infantile myasthenia

Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS-EA is an autosomal recessive form of presynaptic CMS. For a discussion of genetic heterogeneity of CMS, see {608931}. Neonatal myasthenia gravis is a distinct disorder caused by passive transfer of maternal acetylcholine receptor (AChR) autoantibodies to the fetus from a mother with myasthenia gravis ({254200}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Myasthenic Syndrome with Episodic Apnea" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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