Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review.

ABSTRACT: Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

SUBMITTER: Quiroga-Carrillo M 

PROVIDER: S-EPMC7585666 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature