title: Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis.
abstract: Acetazolamide is commonly used as an empirical treatment for inherited periodic paralyses although some patients may develop deleterious effects. We report a 65 year-old man with hyperkalemic periodic paralysis and late-onset permanent weakness in association with the common T704M mutation in α-subunit, skeletal muscle voltage-gated sodium channel gene. He rapidly recovered from weakness after acetazolamide treatment. Magnetic resonance imaging of thighs comparing pre- and post-treatment revealed a significant increase in muscle bulk. The patient has been without any type of weakness for over 6 years. This data show the remarkable benefit of acetazolamide on permanent weakness of hyperkalemic periodic paralysis in association with the T704M mutation.
authors.affiliation: Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Charungthai
authors.initials: C
authors.lastname: Dejthevaporn
authors.forename: Chutima
authors.initials: C
authors.lastname: Papsing
authors.forename: Bunyong
authors.initials: B
authors.lastname: Phakdeekitcharoen
authors.forename: Suphaneewan
authors.initials: S
authors.lastname: Jaovisidha
authors.forename: Suchart
authors.initials: S
authors.lastname: Phudhichareonrat
authors.forename: Rawiphan
authors.initials: R
authors.lastname: Witoonpanich
authors.forename: Teeratorn
authors.initials: T
authors.lastname: Pulkes
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000368:Aged; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000188:drug therapy*; D009154:Mutation / Q000235:genetics*; D020513:Paralysis, Hyperkalemic Periodic / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D013995:Time; D016896:Treatment Outcome
chemical_list: D000086:Acetazolamide