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October 3, 2012

Mexiletine for Treatment of Myotonia: A Trial Triumph for Rare Disease Networks

Author Affiliations

Author Affiliations: Center for Genetic Medicine Research, Children's National Medical Center, and Department of Integrative Systems Biology (Dr Hoffman), and Departments of Neurology and Pharmacology and Physiology (Dr Kaminski), George Washington University, Washington, DC.

JAMA. 2012;308(13):1377-1378. doi:10.1001/jama.2012.12906

Patients with nondystrophic myotonias typically have myotonia as an isolated symptom, without muscular wasting, although the patient's myotonia may be associated with muscle weakness and fatigue or transient attacks of paralysis. Episodes of myotonia may be triggered by cold (paramyotonia congenita), potassium (potassium aggravated myotonia), or exercise (Thompson and Becker myotonia). Most cases of nondystrophic myotonia are caused by mutations in 2 skeletal muscle ion channels: the voltage-sensitive sodium channel responsible for carrying the action potential (SCN4A) and the chloride channel responsible for maintaining the resting membrane potential (CLCN1).1

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