Electromyography guides toward subgroups of mutations in muscle channelopathies

Annals of Neurology
Emmanuel FournierB Fontaine

Abstract

Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutations in genes coding for skeletal muscle voltage-gated ion channels. Exercise is known to trigger, aggravate, or relieve the symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. We report the outcome of an inclusive electromyographic survey of a large population of patients with identified ion channel gene defects. Standardized protocols comprising short and long exercise tests were applied on 41 unaffected control subjects and on 51 case patients with chloride, sodium, or calcium channel mutations known to cause myotonia or periodic paralysis. These tests disclosed significant changes of compound muscle action potential, which generally matched the clinical symptoms. Combining the responses to the different tests defined five electromyographic patterns (I-V) that correlated with subgroups of mutations and may be used in clinical practice as guides for molecu...Continue Reading

References

Oct 1, 1986·Muscle & Nerve·P G McManisJ R Daube
Feb 1, 1986·Neurology·S H Subramony, A S Wee
Jan 1, 1982·Muscle & Nerve·R L Barchi
Dec 20, 1994·Proceedings of the National Academy of Sciences of the United States of America·N YangA L George
Nov 1, 1993·Archives of Neurology·R RüdelF Lehmann-Horn
May 1, 1996·The Journal of General Physiology·L J HaywardS C Cannon
Aug 4, 1998·The American Journal of Medicine·L Ptácek
Oct 3, 1999·Physiological Reviews·F Lehmann-Horn, K Jurkat-Rott
Jul 7, 2000·Muscle & Nerve·T KuntzerG Monnier
Aug 24, 2000·Proceedings of the National Academy of Sciences of the United States of America·R L Ruff
Jul 16, 2002·Neuromuscular Disorders : NMD·Stephen C Cannon
Mar 28, 2003·Muscle & Nerve·Eskild Colding-JørgensenJohn Vissing
May 27, 2003·Proceedings of the National Academy of Sciences of the United States of America·Akira TsujinoAndrew G Engel

❮ Previous
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Citations

Oct 4, 2012·JAMA : the Journal of the American Medical Association·Jeffrey M StatlandUNKNOWN Consortium for Clinical Investigation of Neurologic Channelopathies
Jan 26, 2012·Journal of Neurology·Rachel C Thornton, Andrew W Michell
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Bertrand FontaineNacira Tabti
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Shannon L VenanceRobert C Griggs
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Valeria Sansone, Rabi Tawil
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·James C Cleland, Eric L Logigian
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Chad R Heatwole, Richard T Moxley
Aug 26, 2006·Nature Clinical Practice. Neurology·Michael G Hanna
Aug 26, 2006·Nature Clinical Practice. Neurology·Nicolas ChrestianNicolas Dupré
Nov 18, 2009·Brain : a Journal of Neurology·E MatthewsUNKNOWN CINCH Investigators
Jul 3, 2009·Current Opinion in Neurology·Daniel Platt, Robert Griggs
Mar 20, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J-M BurgunderUNKNOWN EFNS
Mar 5, 2008·The Journal of Clinical Investigation·Lawrence J HaywardRobert H Brown
Oct 30, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Stanislas FaguerDavid Ribes
Jan 1, 2008·Annals of Indian Academy of Neurology·Ajith CherianAbraham Kuruvilla
Jun 19, 2013·Brain : a Journal of Neurology·Jaya R TrivediUNKNOWN CINCH Consortium
Jan 18, 2014·Current Neurology and Neuroscience Reports·Christina M UlaneJacinda Sampson
Oct 2, 2013·Journal of Pediatric Neurosciences·Rashid SaleemNahin Hussain
Jun 19, 2014·BMJ Case Reports·Armelle MagotYann Péréon
Jul 20, 2014·Neurologic Clinics·Jeffrey StatlandJaya R Trivedi
Aug 15, 2014·Current Treatment Options in Neurology·Lydia Sharp, Jaya R Trivedi
Oct 2, 2014·Archivos de cardiología de México·Manlio F MárquezManuel Cárdenas
Sep 27, 2013·Expert Opinion on Medical Diagnostics·Jennifer SpillaneMichael G Hanna
Jun 4, 2015·European Journal of Human Genetics : EJHG·Véronique BissaySonia Van Dooren
Sep 14, 2015·Neuromuscular Disorders : NMD·Kunihiko ArakiGen Sobue
Feb 3, 2016·Frontiers in Pharmacology·Gildas LoussouarnFlavien Charpentier
May 8, 2013·Annales Françaises D'anesthèsie Et De Rèanimation·B FrossardD Benhamou
Jan 16, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C GilibertoM Zappia
Jan 3, 2016·Journal of the Neurological Sciences·Giovanni CirilloGioacchino Tedeschi
Nov 28, 2012·Physical Medicine and Rehabilitation Clinics of North America·Michael K Hehir, Eric L Logigian
Nov 28, 2012·Physical Medicine and Rehabilitation Clinics of North America·Sabrina Paganoni, Anthony Amato
Mar 1, 2012·Neurologic Clinics·David Lacomis
Mar 1, 2012·Neurologic Clinics·Devon I Rubin
Jun 7, 2011·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·J Díaz-ManeraI Illa
Jul 20, 2010·Neuromuscular Disorders : NMD·Kristl G ClaeysPascal Laforêt
Feb 26, 2010·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Arun V Krishnan
Sep 8, 2009·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Susan E TomlinsonDavid Burke
Mar 14, 2008·Neuromuscular Disorders : NMD·Nicolas DupréJack Puymirat
Sep 25, 2007·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Delphine BoërioJean-Pascal Lefaucheur
Jun 21, 2006·Annals of Neurology·Emmanuel FournierBertrand Fontaine
Nov 23, 2007·Acta Neurologica Scandinavica·J Finsterer
Jan 16, 2009·Muscle & Nerve·Jasper R Daube, Devon I Rubin
Mar 10, 2011·Annals of Neurology·S Veronica TanMichael G Hanna
Jun 14, 2012·Muscle & Nerve·Delphine BoërioHugh Bostock
Sep 19, 2012·Muscle & Nerve·Jeffrey M StatlandUNKNOWN CINCH Consortium

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