Abstract

Episodes of periodic paralysis are secondary to abnormalities in channel composition and are characterized by generalized muscle weakness with hypotonia and areflexia. They do not affect bulbar or respiratory muscles and there are no cognitive abnormalities. At present, genetic tests are the pillar for diagnosing these syndromes. Determining serum potassium levels during attacks, recognizing triggering factors, clinical or electrical myotonia, the results of electrodiagnostic tests, cardiac arrhythmia, and craniofacial and skeletal characteristics help distinguish various forms of hereditary periodic paralysis. Serum potassium levels may remain within normal range during attacks both in hypokalemic periodic paralysis and hyperkalemic periodic paralysis. Acetazolamide is used in chronic treatment for hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and related syndromes. Mitochondrial anomalies may affect any high-energy organ, including the brain, heart, kidneys, gastrointestinal tract, retina, or muscle.

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