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.
Episodic Muscle Disorders / V. Sansone. - In: CONTINUUM. - ISSN 1080-2371. - 25:6(2019 Dec), pp. 1696-1711. [10.1212/CON.0000000000000802]
Episodic Muscle Disorders
V. Sansone
2019
Abstract
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.File | Dimensione | Formato | |
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