Details

Autor(en) / Beteiligte

• Dejthevaporn, Charungthai
• Wetchaphanphesat, Suppachok
• Pulkes, Teeratorn
• Rattanasiri, Sasivimol
• Engel, Andrew G.
• Witoonpanich, Rawiphan

Titel

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

Ist Teil von

• Journal of clinical neuroscience, 2022-02, Vol.96, p.85-89

Ort / Verlag

Scotland: Elsevier Ltd

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• •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.