title: Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
abstract: In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with 25 mg/day and slowly increased to 75-100 mg/day. Within weeks after starting therapy an improvement was observed in all patients and clinical follow-up disclosed positive effects more pronounced on proximal muscle weakness and strength using MRC scale. Effects on facial weakness were less pronounced. Vital capacity measurements and repetitive stimulation tests did not improve in the same way as clinical symptoms did. These investigations are appropriate to confirm the diagnosis in case of pathological results, but they might not be appropriate means to monitor patients under ephedrine therapy.
authors.affiliation: Dept. of Pediatric Neurology, University of Essen, Germany. ulrike.schara@uk-essen.de
authors.forename: U
authors.initials: U
authors.lastname: Schara
authors.forename: N
authors.initials: N
authors.lastname: Barisic
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: C
authors.initials: C
authors.lastname: Lindberg
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.forename: N
authors.initials: N
authors.lastname: Strigl-Pill
authors.forename: M
authors.initials: M
authors.lastname: Wendt
authors.forename: A
authors.initials: A
authors.lastname: Abicht
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D004809:Ephedrine / Q000627:therapeutic use*; D005145:Face; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000188:drug therapy / Q000235:genetics; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics*; D011446:Prospective Studies; D012720:Severity of Illness Index; D013566:Sympathomimetics / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: C511692:DOK7 protein, human; D009124:Muscle Proteins; D013566:Sympathomimetics; D004809:Ephedrine