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Congenital myasthenic syndrome
Other Names for this Disease
- Congenital Myasthenia
- Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
- Congenital myasthenic syndrome with episodic apnea
- Lambert Eaton myasthenic syndrome
- Slow-channel congenital myasthenic syndrome
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 There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness.
Last updated: 7/10/2013
- Abicht A, Muller J, Lochmuller H. Congenital Myasthenic Syndromes. GeneReviews. June, 28 2012; http://www.ncbi.nlm.nih.gov/books/NBK1168/. Accessed 7/1/2013.
- Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC. Congenital Myasthenic syndrome: A Brief Review. Pediatric Neurology. 2012; http://www.ncbi.nlm.nih.gov/pubmed/ 22353287. Accessed 7/1/2013.
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- Muscular Dystrophy Association has information and resources about congenital myasthenic syndrome.
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