title: Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.
abstract: Slow channel congenital myasthenic syndrome is caused by a genetically determined kinetic anomaly of the acetylcholine receptor at the neuromuscular junction leading to its prolonged open state. Patients typically present with fatigability and static weakness of neck, hand and finger extensors. The open-channel blockers fluoxetine and quinidine have been used as standard treatment, although the former is limited by its side effects. We describe a patient with a novel "de novo" mutation in the α subunit of acetylcholine receptor with clinical and electrophysiological hallmarks of the disease. The patient showed marked treatment response to fluoxetine as well as quinine, a stereoisomer of quinidine, expanding the treatment options for this hereditary disorder.
authors.affiliation: Department of Neurology and Biomedicine, University Hospital Basel, CH, Switzerland. Anne-Kathrin.Peyer@usb.ch
authors.forename: Anne-Kathrin
authors.initials: AK
authors.lastname: Peyer
authors.forename: Angela
authors.initials: A
authors.lastname: Abicht
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.forename: Michael
authors.initials: M
authors.lastname: Sinnreich
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics; D009469:Neuromuscular Junction / Q000187:drug effects / Q000235:genetics / Q000503:physiopathology; D011803:Quinine / Q000627:therapeutic use*; D011950:Receptors, Cholinergic / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D011950:Receptors, Cholinergic; D011803:Quinine