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.

Acquired hyperkalaemia leading to periodic paralysis: an emergency department perspective

“…A constant shifting between the intracellular and extracellular compartments maintains normal potassium levels. Attacks are triggered or aggravated by the intake of potassium-rich foods, emotional stress, fasting, cold environment, glucocorticoids, pregnancy or rest after intense exercise 9. There is an association with point mutations in the SCN4A gene.…”