Hypokalemic periodic paralysis (hypoPP) is a rare disorder caused by skeletal muscle ion channel mutations, mainly affecting calcium or sodium channels. HypoPP is characterized by episodic severe muscle weakness, usually triggered by strenuous exercise or a high-carbohydrate diet. Patients with hypoPP experience a sudden onset of generalized or focal flaccid paralysis associated with low blood serum potassium levels (or hypokalemia), which can last for several hours before resolving spontaneously.
The majority of hypoPP cases are hereditary or familial. The familial form of hypoPP is a rare channelopathy resulting from mutations in either the calcium or sodium ion channels, predominantly affecting skeletal muscle cells. Acquired cases of hypoPP are also identified and associated with hyperthyroidism. The disease-causing mutation in hypoPP, specifically in the CACNA1S gene, was identified by Jurkat-Rott et al in 1994.
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