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

الملخص EN

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.