Congenital myasthenic syndrome
Other Names for this Disease
- Congenital Myasthenia
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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.
- The MayoClinic.com Web site provides further information on this topic. Click on MayoClinic.com to view the information page.
- Genetics Home Reference (GHR) contains information on Congenital myasthenic syndrome. This website is maintained by the National Library of Medicine.
- Muscular Dystrophy Association has information and resources about Congenital myasthenic syndrome. Please click on the link to access this resource.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital myasthenic syndrome. Click on the link to view a sample search on this topic.