Paramyotonia congenita

Definition:

Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A.

References:

[1]. Chad R Heatwole, et al. The nondystrophic myotonias. Neurotherapeutics. 2007 Apr;4(2):238-51. [Content Brief]

[2]. Daniel Platt, et al. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol. 2009 Oct;22(5):524-31. [Content Brief]

[3]. Dipa L Raja Rayan, et al. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 2010 Oct;23(5):466-76. [Content Brief]

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