Hyperkalemic periodic paralysis
- Laurie Gutmann, MD
Laurie Gutmann, MD
- Professor and Vice Chair of Clinical Research
- University of Iowa
- Robin Conwit, MD
Robin Conwit, MD
- Program Director, Division of Extramural Research
- National Institutes of Health, National Institute of Neurological Disorders and Stroke
Periodic paralysis is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. It is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic when episodes can be induced by elevated potassium. Most cases of periodic paralysis are hereditary, usually with an autosomal dominant inheritance pattern [1,2].
Hyperkalemic periodic paralysis is a muscle disease that has onset in infancy or early childhood and is manifested by transient episodes of paralysis, usually precipitated by cold exposure, rest after exercise, fasting, or the ingestion of small amounts of potassium [1,2]. The first description in 1951 was of a family with frequent attacks of paralysis that were of short duration and precipitated by rest after exercise, stress, and certain foods . Later, an important observation made was that potassium levels were high in some patients and potassium administration frequently precipitated these attacks .
Hyperkalemic periodic paralysis (PP) is a rare disorder, with an estimated prevalence of 1:200,000 . Women and men appear to be equally affected.
Hyperkalemic PP is an autosomal dominant condition with nearly complete penetrance. The cause of hyperkalemic PP is a change in a gene that regulates the production of a protein (SCN4A) in the sodium channel of skeletal muscle. The gene is located in chromosome 17q23, and is known as SCN4A [1,2,6,7]. At least nine different mutations in this gene have been identified that can cause hyperkalemic PP [5,7,8].
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