title: Muscle channelopathies.
abstract: Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis and therapeutics. These disorders can cause lifetime disability and affect quality of life. There is no treatment of these disorders approved by the US Food and Drug Administration at this time. Recognition and treatment of symptoms might reduce morbidity and improve quality of life. This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, congenital myasthenic syndrome, and periodic paralyses.
authors.affiliation: Department of Neurology, University of Rochester, 601 Elmwood Drive, Rochester, NY 14607, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Statland
authors.affiliation: Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
authors.forename: Lauren
authors.initials: L
authors.lastname: Phillips
authors.affiliation: Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. Electronic address: jaya.trivedi@utsouthwestern.edu.
authors.forename: Jaya R
authors.initials: JR
authors.lastname: Trivedi
mesh_terms: D053447:Channelopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009222:Myotonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D020967:Myotonic Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
chemical_list: D007473:Ion Channels
keywords: Channelopathies; Congenital myasthenic syndrome; Ion channel; Nondystrophic myotonia; Periodic paralysis