title: Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine.
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.
authors.affiliation: Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu,2 08950 Esplugues, Barcelona, Spain. colomer@hsjdbcn.org
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: A
authors.initials: A
authors.lastname: Vernet
authors.forename: A
authors.initials: A
authors.lastname: Nascimento
authors.forename: M
authors.initials: M
authors.lastname: Pons
authors.forename: V
authors.initials: V
authors.lastname: Gonzalez
authors.forename: A
authors.initials: A
authors.lastname: Abicht
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000293:Adolescent; D002800:Cholinesterase Inhibitors / Q000009:adverse effects; D004252:DNA Mutational Analysis; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005473:Fluoxetine / Q000008:administration & dosage*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D009469:Neuromuscular Junction / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D011950:Receptors, Cholinergic / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D011978:Receptors, Nicotinic / Q000235:genetics*; D020127:Recovery of Function / Q000187:drug effects / Q000235:genetics; D017367:Selective Serotonin Reuptake Inhibitors / Q000008:administration & dosage*; D013995:Time; D016896:Treatment Outcome
chemical_list: D002800:Cholinesterase Inhibitors; D005473:Fluoxetine; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic; D017367:Selective Serotonin Reuptake Inhibitors; C504423:CHRNE protein, human