title: Acetazolamide-responsive myotonia congenita.
abstract: We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was relieved by carbohydrate-containing foods. Muscle biopsies showed the presence of type 1, 2A, and 2B fibers, as opposed to the absence of type 2B fibers seen in some patients with myotonia congenita. Acetazolamide was dramatically effective in alleviating myotonia in all patients and was more effective than other antimyotonic agents.
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D005260:Female; D005947:Glucose; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009224:Myotonia Congenita / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011188:Potassium
chemical_list: D005947:Glucose; D000086:Acetazolamide; D011188:Potassium