Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine

• Published in: Journal of clinical neuroscience Vol. 96; pp. 85 - 89
• Main Authors: Dejthevaporn, Charungthai, Wetchaphanphesat, Suppachok, Pulkes, Teeratorn, Rattanasiri, Sasivimol, Engel, Andrew G., Witoonpanich, Rawiphan
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.02.2022
• Subjects: Fluoxetine; Fluoxetine - therapeutic use; Humans; Mutation; Myasthenic Syndromes, Congenital - drug therapy; Myasthenic Syndromes, Congenital - genetics; Prospective Studies; Receptors, Cholinergic - genetics; Slow-channel congenital myasthenic syndrome; Thai; Thailand; Treatment; Thailand; Slow-channel congenital myasthenic syndrome; Treatment; Thai; Fluoxetine
• ISSN: 0967-5868; 1532-2653; 1532-2653
• DOI: 10.1016/j.jocn.2021.12.016

•The slow-channel congenital myasthenic syndrome (SCCMS) is a rare neuromuscular disorder.•Fluoxetine is effective in the treatment of SCCMS.•All patients showed progressive improvement in their muscle power and endurance. The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.Gly153Ala (c.518G > C) mutation in CHRNA1 in the AChR α subunit. These patients showed significant clinical improvement following fluoxetine treatment but their respiratory function responded variably.