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

Autor:	Charungthai Dejthevaporn, Suppachok Wetchaphanphesat, Teeratorn Pulkes, Sasivimol Rattanasiri, Andrew G. Engel, Rawiphan Witoonpanich
Rok vydání:	2021
Předmět:	Myasthenic Syndromes Congenital Neurology Physiology (medical) Fluoxetine Mutation Humans Surgery Receptors Cholinergic Neurology (clinical) General Medicine Prospective Studies Thailand
Zdroj:	Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 96
ISSN:	1532-2653
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b860e511d58c90388992b2901974237 https://pubmed.ncbi.nlm.nih.gov/34999496 Zobrazit plný text záznamu Full Text from ScienceDirect