title: Clinical features in a series of fast channel congenital myasthenia syndrome.
abstract: Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 fast channel patients to highlight clinical features and management difficulties. Patients were diagnosed through genetic screening and identification of mutations shown to cause fast channel syndrome. Data was obtained from clinical notes, history, examination and follow up. Patterns of muscle weakness involved limb, trunk, bulbar, respiratory, facial and extraocular muscles. Patients responded to treatment with anticholinesterase medication and 3,4-diaminopyridine. Fast channel syndrome contrasted with AChR deficiency in the occurrence of severe respiratory crises in infancy and childhood. The death of two children even when on treatment and the family histories of sibling deaths re-inforces the need for accurate genetic diagnosis, optimised pharmacological treatment and additional supportive measures to manage acute respiratory crises. Referral to a specialist paediatric respiratory centre and regular resuscitation training for parents are recommended.
authors.affiliation: Department of Neurology, John Radcliffe Hospital, Oxford, UK.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Palace
authors.forename: Daniel
authors.initials: D
authors.lastname: Lashley
authors.forename: Stephen
authors.initials: S
authors.lastname: Bailey
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
authors.forename: Aisling
authors.initials: A
authors.lastname: Carr
authors.forename: John
authors.initials: J
authors.lastname: McConville
authors.forename: Stephanie
authors.initials: S
authors.lastname: Robb
authors.forename: David
authors.initials: D
authors.lastname: Beeson
mesh_terms: D015761:4-Aminopyridine / Q000031:analogs & derivatives / Q000494:pharmacology / Q000627:therapeutic use; D000328:Adult; D000077770:Amifampridine; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008875:Middle Aged; D018908:Muscle Weakness / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
chemical_list: D015761:4-Aminopyridine; D000077770:Amifampridine