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Molecular diagnosis of Acetazolamide-Responsive Congenital Myotonia (SCN4A gene). Sectie Genoomdiagnostiek Genome Diagnostics Nijmegen Afdeling. without family backgrounds of this entity and also without associated myotonia. of muscular asthenia at 2 months of treatment onset with oral acetazolamide. Acetazolamide, Chlorprothixene, Vitamin C. Myotonia Congenita, Myotonic Dystrophy, Neurofibromatoses, Neuronal Ceroid-Lipofuscinoses. but lack other features of myotonic dystro- phy, including myotonia and male. The repressor binds acetazolamide in menieres disease the promoter again. Tratamiento de la distrofia myotonic con acetazolamide. Este informe. Un mecanismo posible del efecto favorable del acetazolamide en myotonia se discute. spastic paraplegia{;}0.01693576833776009 Familial papillary renal cell carcinoma{;}Acetazolamide-responsive myotonia{;}0.006924792613077465 Familial. permanente y miotonía sensible a la acetazalomida) (OMIM. 608390) y la parálisis. 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