Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita

Introduction: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation: We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical

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Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita

Cited by 3 publications

References 18 publications

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