Congenital myasthenic syndromes are a rare heterogeneous group of conditions, caused by inherited mutations in genes responsible for the release, manufacture, or recognition of ACh at the NMJ. Some studies suggest that between 2-12 people per 1,000,000 may have CMS. A single copy of these materials may be reprinted for noncommercial personal use only. Mayo Clinic researchers in nervous system conditions (neurologists), hereditary conditions (medical geneticists) and other areas conduct research in congenital myasthenic syndromes.
2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. 2004 Feb;160(2):163-76. doi: 10.1016/s0035-3787(04)70887-5.Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.2001 Jan 22 [updated 2012 Aug 23]. If you have problems viewing PDF files, download the latest version of Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311 There are no doctors whose last name begins with the letter AThere are no doctors whose last name begins with the letter BThere are no doctors whose last name begins with the letter CThere are no doctors whose last name begins with the letter D Find a doctor whose last name begins with the letter EThere are no doctors whose last name begins with the letter FThere are no doctors whose last name begins with the letter G Find a doctor whose last name begins with the letter HThere are no doctors whose last name begins with the letter IThere are no doctors whose last name begins with the letter JThere are no doctors whose last name begins with the letter K Find a doctor whose last name begins with the letter LThere are no doctors whose last name begins with the letter MThere are no doctors whose last name begins with the letter NThere are no doctors whose last name begins with the letter OThere are no doctors whose last name begins with the letter PThere are no doctors whose last name begins with the letter Q Find a doctor whose last name begins with the letter R Find a doctor whose last name begins with the letter SThere are no doctors whose last name begins with the letter TThere are no doctors whose last name begins with the letter UThere are no doctors whose last name begins with the letter VThere are no doctors whose last name begins with the letter WThere are no doctors whose last name begins with the letter XThere are no doctors whose last name begins with the letter YThere are no doctors whose last name begins with the letter Zyopathy, Congenital myasthenic syndrome, Myasthenia gravis, Dermatomyositis, Central core disease, Inflammatory myopathy, Myotonic dystrophy, Amyloidosis, Myoglobinuria with muscle diseasey, Myopathy, Lambert-Eaton Syndrome, Myasthenia gravis, Peripheral neuropathy, Motor neuron disease, Brachial plexus neuropathy, Inflammatory myopathy, Spinal muscular atrophy, Facioscapulohumeral muscular dystrophy, Mitochondrial myopathy, Muscular dystrophy, Neuromyotonia, Limb girdle dystrophy, Charcot-Marie-Tooth disease, Duchenne muscular dystrophy, Motor neuron disease, Myotonic dystrophy, Juvenile motor neuron disease, Scapuloperoneal muscular dystrophy, Childhood Lambert-Eaton syndrome, Congenital myasthenic syndrome, Myasthenia gravis, Neuromuscular disorder, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis, Juvenile dermatomyositis, Myositis, Polymyositis 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. What have we learned from the congenital myasthenic syndromes. Acid reflux disease 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006.
This site needs JavaScript to work properly. General Discussion. This factsheet is for children and adults diagnosed with congenital myasthenic syndrome (CMS). Inclusion on this list is not an endorsement by GARD.These resources provide more information about this condition or associated symptoms. Engel AG, Shen XM, Selcen D, Sine SM. Current status of the congenital myasthenic syndromes. Weakness in muscles of upper arms and upper legs COVID-19 is an emerging, rapidly evolving situation.
The age of onset, severity of presenting symptoms, and distribution of muscle weakness can vary from one … Narrow lower jaw