Review of the Diagnosis and Treatment of Periodic Paralysis.

Jeffrey M Statland, Bertrand Fontaine, Michael G Hanna, Nicholas E Johnson, John T Kissel, Valeria A Sansone, Perry B Shieh, Rabi N Tawil, Jaya Trivedi, Stephen C Cannon, Robert C Griggs

Journal: Muscle & nerve 2019;57(4):522-530

PMID: 29125635

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Abstract

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.

Address: Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, Kansas, 66160, USA.; Sorbonne-Université, INSERM, AP-HP, Reference Center for Channelopathies, Department of Neuology, University Hospital Pitié-Salpêtrière, Paris, France.; MRC Center for Neuromuscular Diseases, University College of London Institute of Neurology, London, England.; Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Department of Neurology, The Ohio State University, Columbus, Ohio, USA.; The NEMO Center, Neurorehabilitation Unit, University of Milan, Italy.; Department of Neurology, University of California at Los Angeles School of Medicine, Los Angeles, California, USA.; Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Physiology, University of California at Los Angeles School of Medicine, Los Angeles, California, USA.

DOI: 10.1002/mus.26009