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"Status myotonicus" in Nav1.4-M1592V channelopathy
1Department of Neurology, University of Florida College of Medicine, 1149 Newell Dr, Gainesville, FL 32610, USA.
Abstract:
Nav1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to Nav1.4-M1592V channelopathy with severe and long-lasting focal attacks of myotonia resembling dystonic posturing with diffuse muscle edema in the affected muscles in magnetic resonance imaging and almost constant presence of myotonic discharges in electromyography that can best be described as focal "status myotonicus".
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