title: Treatment of paramyotonia congenita with acetazolamide.
abstract: Treatment of paramyotonia congenita with acetazolamide has been shown to reduce myotonic symptoms but severe weakness has developed in some patients leading to a recommendation not to use the drug in this disorder. We studied a patient with the characteristic clinical and electrophysiological profile of paramyotonia congenita. Myotonia was effectively treated with a very low dose of acetazolamide and no weakness developed. We conclude that acetazolamide can be a safe and effective medication in paramyotonia congenita.
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D003080:Cold Temperature; D004305:Dose-Response Relationship, Drug; D004576:Electromyography; D005260:Female; D006801:Humans; D009224:Myotonia Congenita / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D000086:Acetazolamide