Potassium-aggravated myotonia

Definition:

Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: (1) the myotonia is exacerbated by potassium ingestion; (2) the myotonia does not worsen with cold exposure; and (3) there is no major weakness.

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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