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.
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Authors | Charungthai Dejthevaporn, Chutima Papsing, Bunyong Phakdeekitcharoen, Suphaneewan Jaovisidha, Suchart Phudhichareonrat, Rawiphan Witoonpanich, Teeratorn Pulkes |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 23
Issue 5
Pg. 445-9
(May 2013)
ISSN: 1873-2364 [Electronic] England |
PMID | 23473731
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013 Elsevier B.V. All rights reserved. |
Chemical References |
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Topics |
- Acetazolamide
(therapeutic use)
- Aged
- Humans
- Male
- Muscle Weakness
(drug therapy)
- Mutation
(genetics)
- Paralysis, Hyperkalemic Periodic
(diagnosis, drug therapy, genetics, pathology)
- Time
- Treatment Outcome
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