title: Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.
abstract: A 32-year-old woman with a 4-year history of multiple sclerosis presented with persistent clawing of the right hand. History revealed that she and five family members had lifelong symptoms of paradoxical myotonia (impaired relaxation of muscles following muscle contraction), exacerbated by cold. The family was diagnosed with paramyotonia congenita, based on neurophysiological and genetic studies. To our knowledge, this is the first report of an Australian family with paramyotonia congenita.
authors.affiliation: Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. Sharavanan.Parasivam@fmc.sa.gov.au
authors.forename: Sharavanan
authors.initials: S
authors.lastname: Parasivam
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Krupa
authors.forename: Mark
authors.initials: M
authors.lastname: Slee
authors.forename: Dominic E
authors.initials: DE
authors.lastname: Thyagarajan
authors.forename: Thyagarajan E
authors.initials: TE
authors.lastname: Dominic
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D020967:Myotonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics* / Q000502:physiology
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels