Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

Neuromuscular Disorders : NMD
J ColomerHanns Lochmüller

Abstract

We report on a 15-year-old patient who was diagnosed with congenital myasthenic syndrome (CMS) at the age of 7 months. At initial diagnosis, the CMS was not further characterized. The patient was treated for several years with the anticholinesterase drug (Mestinon), without clinical benefit. The patient deteriorated progressively and became dependent on home nocturnal ventilatory support, being unable to take part in daily life activities at age of 12 years. At age 14, the slow-channel syndrome mutation CHRNE L269F (805C>T) was detected and acetylcholinesterase inhibitor therapy was immediately stopped. Fluoxetine therapy was started and gradually increased over 2 months. The boy improved dramatically in strength and endurance and was taken off ventilatory support 1 month after the fluoxetine therapy was initiated. The clinical improvement was confirmed by functional respiratory and electrophysiological tests.

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Citations

Aug 9, 2011·Journal of Neurology·Amina ChaouchHanns Lochmüller
Nov 21, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ulrike Schara, Hanns Lochmüller
Aug 19, 2008·Journal of Neuroimmunology·M KinaliS A Robb
Jul 20, 2007·Developmental Medicine and Child Neurology·J R Parr, S Jayawant
Jun 14, 2008·Chemico-biological Interactions·Christelle BertrandArnaud Chatonnet
Dec 3, 2014·Experimental Neurology·Haipeng ZhuChristopher M Gomez
Jan 9, 2008·Brain : a Journal of Neurology·Violeta MihaylovaHanns Lochmüller
Aug 10, 2007·Expert Reviews in Molecular Medicine·Juliane S MüllerHanns Lochmüller
Dec 14, 2018·The Journal of General Physiology·Vinay IdikudaLei Zhou
Dec 14, 2018·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Corrado AngeliniGiovanni Vazza
Sep 29, 2019·Annals of Clinical and Translational Neurology·Xin-Ming ShenAndrew G Engel

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