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Myotonia Congenita, Myotonic Dystrophy, Neurofibromatoses, Neuronal Ceroid-Lipofuscinoses. is increasingly being used to pathologic description of muscle fiber degeneration and abnormal muscle. Patients show percussion, grip, and eyelid myotonia. high altitude ask your doctor about a medication called acetazolamide Diamox. a family history of myotonia congenita should consider genetic counseling. Se puede observar miotonía en ciertos grupos musculares. Entre las. Sodium channel mutations in acetazolamide-responsive myotonia. Myotonia can be classified into dystrophic and non-dystrophic myotonia. response (# 614198), atypical myotonia congenita acetazolamide sensitive. The differential diagnosis includes thyrotoxic periodic paralysis, myotonia. A low sodium intake and the administration of acetazolamide, 125-250 mg bid or tid. Acetazolamide efficacy in hypokalemic periodic paralysis and the. 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