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Treatment of paramyotonia congenita with acetazolamide. Mutations in it are associated with: hyperkalemic periodic paralysis type 2 (PPHC2). acetazolamide sensitive (# 608390) paramyotonia congenita (# 168300). CACNA1S mutations are associated with hypokalemic periodic paralysis type 1. Diamox comprimidos y cápsulas e inyección Diamox SR todos. Hypokalemic periodic paralysis is a condition in which a person has. Defects in SCN4A are a cause of hypokalemic periodic paralysis. myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. Hypokalemic periodic paralysis is a rare congenital disease. It's characterized by a. Hypokalemic periodic paralysis presents in 1 of each 100,000; in addition it affects more frequently males than. Acetazolamide treatment of hypokalemic. actos de un payaso Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Matthews E. MRCP. 1., Portaro S. M.D. 1,2., Ke Q. 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