Congenital myasthenic syndromes are hereditary (genetic) conditions resulting from a defect at the junction where your nerve stimulates muscle activity that results in muscle weakness.
Congenital myasthenic syndromes may affect your nerve cells (presynaptic), your muscle cells (postsynaptic), or the space between your nerve and muscle cells (synaptic).
Feb. 24, 2014
- NINDS congenital myasthenia information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/congenital_myasthenia/congenital_myasthenia.htm. Accessed Sept. 4, 2013.
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- Engel AG. Congenital myasthenic syndromes in 2012. Current Neurology and Neuroscience Reports. 2012;12:92.
- Engel AG. The therapy of congenital myasthenic syndromes. Neurotherapeutics. 2007;4:252.
- Neurological diagnostic tests and procedures. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/misc/diagnostic_tests.htm. Accessed Sept. 5, 2013.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. Aug. 29, 2013.
- Schara U, et al. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics. 2008;5:542.
- Abicht A, et al. Congenital myasthenic syndromes. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1168/. Accessed Sept. 27, 2013.
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