Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.
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.
Parasivam
Sharavanan
S
Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. Sharavanan.Parasivam@fmc.sa.gov.au
Krupa
Malgorzata
M
Slee
Mark
M
Thyagarajan
Dominic E
DE
Dominic
Thyagarajan E
TE
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
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels