Episodic Muscle Disorders

Valeria A. Sansone, MD, PhD Muscle and Neuromuscular Junction Disorders p. 1696-1711 December 2019, Vol.25, No.6 doi: 10.1212/CON.0000000000000802
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PURPOSE OF REVIEW This article reviews the episodic muscle disorders, including benign cramp-fasciculation syndrome, the periodic paralyses, and the nondystrophic myotonias. The core diagnostic criteria for a diagnosis of primary periodic paralysis, including clues to distinguish between the hypokalemic and hyperkalemic forms, and the distinctive elements that characterize Andersen-Tawil syndrome are discussed. Management of patients with these disorders is also discussed.

RECENT FINDINGS Childhood presentations of periodic paralysis have recently been described, including atypical findings. Carbonic anhydrase inhibitors, such as dichlorphenamide, have recently been approved by the US Food and Drug Administration (FDA) for the treatment of both hypokalemic and hyperkalemic forms of periodic paralysis. Muscle MRI may be a useful outcome measure in pharmacologic trials in periodic paralysis. Genetic research continues to identify additional gene mutations responsible for periodic paralysis.

SUMMARY This article will help neurologists diagnose and manage episodic muscle disorders and, in particular, the periodic paralyses and the nondystrophic myotonias.

Address correspondence to Dr Valeria A. Sansone, Neurorehabilitation Unit, University of Milan, Piazza Ospedale Maggiore, 3, 20162 ASST Niguarda Hospital, Milan, Italy, valesans65@gmail.com.

RELATIONSHIP DISCLOSURE: Dr Sansone has served as a scientific consultant on advisory boards for AveXis, Inc; Biogen; PTC Therapeutics; Santhera Pharmaceuticals; and Sarepta Therapeutics and has received research/grant support from Telethon-Unione Italiana Lotta Alla Distrofia Muscolare.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Sansone reports no disclosure.

© 2019 American Academy of Neurology.