Abstract
Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission. Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction. Presynaptic forms are the rarest, affecting an estimated 7-8% of patients; synaptic forms account for approximately 14-15% of patients; and the remaining 75-80% are attributable to postsynaptic defects. Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical manifestations and disease pathophysiology. Although congenital myasthenic syndromes are indicated by clinical manifestations, family history, electrophysiologic studies, and responses to acetylcholinesterase inhibitors, overlap in some presentations occurs. Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes. The identification of congenital myasthenic syndromes subtypes will...Continue Reading
References
Apr 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·B BadyH Carrier
Jun 1, 1982·Annals of Neurology·A G EngelJ N Whitaker
Apr 18, 1998·Annals of Neurology·C M Harper, A G Engel
Oct 3, 1998·American Journal of Human Genetics·C DongerP Guicheney
Aug 14, 1999·Journal of Neuropathology and Experimental Neurology·B L BanwellA G Engel
Feb 15, 2001·Proceedings of the National Academy of Sciences of the United States of America·K OhnoA G Engel
Jan 1, 2003·Muscle & Nerve·Andrew G EngelSteven M Sine
Jan 28, 2003·Muscle & Nerve·Ricardo A MaselliRobert L Wollmann
May 27, 2003·Proceedings of the National Academy of Sciences of the United States of America·Akira TsujinoAndrew G Engel
May 29, 2003·Neurology·C Michel HarperAndrew G Engel
Dec 2, 2004·Brain Research. Brain Research Reviews·Rebeca AldunateNibaldo C Inestrosa
Jun 14, 2005·Neuromuscular Disorders : NMD·David BeesonAndrew G Engel
Jul 13, 2005·Neurology·M Bestue-CardielA G Engel
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Andrew G Engel
Apr 19, 2007·Brain : a Journal of Neurology·Juliane S MüllerHanns Lochmüller
Jan 9, 2008·Brain : a Journal of Neurology·Violeta MihaylovaHanns Lochmüller
Jun 24, 2008·Annals of the New York Academy of Sciences·David BeesonAngela Vincent
Jul 16, 2008·Annals of Neurology·Duygu SelcenAndrew G Engel
Aug 19, 2008·Journal of Neuroimmunology·M KinaliS A Robb
Nov 20, 2008·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Joseph H NogajskiP Ian Andrews
Nov 21, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ulrike Schara, Hanns Lochmüller
Jul 23, 2009·Arquivos de neuro-psiquiatria·Paulo José LorenzoniLineu César Werneck
Aug 19, 2009·Journal of Molecular Neuroscience : MN·Andrew G EngelSteven M Sine
Nov 11, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ulrike ScharaHanns Lochmüller
Dec 2, 2009·Neurology·V MihaylovaV Guergueltcheva
Apr 8, 2010·Human Molecular Genetics·Ricardo A MaselliRobert L Wollmann
May 12, 2010·Neurology·D LashleyD Beeson
Jun 16, 2010·Journal of Neurology, Neurosurgery, and Psychiatry·Jennifer SpillaneDimitri M Kullmann
Jan 26, 2011·Neurology·D SelcenA G Engel
Apr 13, 2011·Neuromuscular Disorders : NMD·Teerin LiewluckAndrew G Engel
Apr 19, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Nina BarišićHanns Lochmüller
Sep 29, 2011·Muscle & Nerve·Teerin LiewluckAndrew G Engel
Oct 15, 2011·Current Neurology and Neuroscience Reports·Andrew G Engel
Citations
Apr 10, 2013·Human Molecular Genetics·Katarzyna ZoltowskaDavid Beeson
Sep 10, 2014·Pediatric Neurology·Alvin S DasBruce H Cohen
Feb 26, 2013·Brain : a Journal of Neurology·Henry Houlden
Jun 25, 2013·Journal of the Neurological Sciences·Paulo J LorenzoniLineu C Werneck
Jan 21, 2016·Muscle & Nerve·Joo-San TanKhean Jin Goh
Oct 24, 2012·Chemico-biological Interactions·Jennifer KarmouchClaire Legay
Jan 6, 2015·Neuromuscular Disorders : NMD·Yiran GuoXun Xu
Feb 19, 2016·Glycobiology·Sanna OikariMarkku I Tammi
Oct 30, 2016·Neuromuscular Disorders : NMD·D Natera-de BenitoJ J Vilchez
May 4, 2017·Journal of Child Neurology·Uluç YişAndrew G Engel
Nov 3, 2017·Pediatrics in Review·Senthil Velan Bhoopalan, Renu Jain
Nov 14, 2017·American Journal of Medical Genetics. Part a·Mathias SchwartzJean-Pierre Siffroi
Dec 18, 2014·The Cochrane Database of Systematic Reviews·Charlotte VrintenJan J G M Verschuuren
Feb 16, 2019·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Anne HeikkinenTaina Pihlajaniemi
Feb 3, 2018·Medicine·Huiru Feng, Hongyu Zhou
Dec 28, 2018·Neurology. Clinical Practice·Amber JohnsonMiguel Chuquilin
Apr 19, 2017·Neurology·Partha S Ghosh
Apr 29, 2018·Medicine·Kunfang YangYucai Chen
Apr 27, 2018·Neuromolecular Medicine·Paulo José LorenzoniHanns Lochmüller
May 7, 2020·Frontiers in Pediatrics·Yanhua ShenMingyan Hei
Aug 21, 2018·Journal of Clinical Neuromuscular Disease·Pavalan SelvamNihal J Thomas
Sep 19, 2019·Muscle & Nerve·Luana Pereira Leite SchetinoCristina Guatimosim
Jan 22, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Michael CamilleriEric W Klee
Oct 12, 2020·Annals of the New York Academy of Sciences·María José Castellanos-MontielItzel Escobedo-Avila
Jan 14, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yanyan MaDingguo Shen
Dec 6, 2020·Neurology·Brian D Stephens, Min K Kang
Sep 24, 2021·Molecular Biology Reports·Rochdi KhaoulaMartin Krahn