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

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 p...

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Bibliographic Details
Published inCase reports in genetics Vol. 2020; no. 2020; pp. 1 - 4
Main Authors Suarez-Obando, Fernando, Ortiz-Corredor, Fernando, Correa-Arrieta, Cristian, Quiroga-Carrillo, Manuela
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Publishing Corporation 16.10.2020
Hindawi
John Wiley & Sons, Inc
Hindawi Limited
Subjects
Case Report
Familial periodic paralysis
Gene mutations
Genes
Genetic aspects
Hydrochlorothiazide
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Summary: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.
Bibliography:Academic Editor: Balraj Mittal
ISSN:2090-6544
2090-6552
DOI:10.1155/2020/8843410