@article{61a066479172463c873ed82109ec3404,
title = "Guidelines on clinical presentation and management of nondystrophic myotonias",
abstract = "The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.",
keywords = "management, myotonia congenita, nondystrophic myotonias, paramyotonia congenita, skeletal muscle channelopathies",
author = "Stunnenberg, {Bas C.} and Samantha LoRusso and Arnold, {W. David} and Barohn, {Richard J.} and Cannon, {Stephen C.} and Bertrand Fontaine and Griggs, {Robert C.} and Hanna, {Michael G.} and Emma Matthews and Giovanni Meola and Sansone, {Valeria A.} and Trivedi, {Jaya R.} and {van Engelen}, {Baziel G.M.} and Savine Vicart and Statland, {Jeffrey M.}",
note = "Funding Information: W.D.A. received research funding from Gilead Sciences for the clinical study of ranolazine as a treatment for myotonia. V.A.S. serves in Advisory Boards as a scientific consultant for Biogen, Avexis, Santhera, Sarepta, PTC, and Dyne. J.M.S. receives grant support from the NIH, FSHD Society, MDA, and Friends of FSH Research, and is a consultant or serves on advisory board for Fulcrum, Dyne, Sarepta, Strongbridge, Acceleron, and Genzyme. B.S., S.L., R.J.B., S.C.C., B.F., R.C.G., M.G.H., E.M., G.M., J.R.T., B.v.E., and S.V. have no relevant disclosures. Funding Information: B.F. research is funded by AFM Telethon. S.C.C. received support from the NIH (NIAMS AR42703). G.M. research is supported By FMM‐Fondazione Malattie Miotoniche, Milan, Italy. Funding Information: B.F. research is funded by AFM Telethon. S.C.C. received support from the NIH (NIAMS AR42703). G.M. research is supported By FMM-Fondazione Malattie Miotoniche, Milan, Italy. Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, Inc.",
year = "2020",
month = oct,
day = "1",
doi = "10.1002/mus.26887",
language = "English (US)",
volume = "62",
pages = "430--444",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "4",
}