title: Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections.
abstract: A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. The clinical diagnosis was further supported by electromyography. Surgical management using a combination of techniques in one operation produced a satisfactory result for both function and appearance. Muscle biopsy was also done during surgery.
authors.affiliation: Great Ormond Street Hospital, London, UK. danny@dannymorrison.co.uk
authors.forename: Danny A
authors.initials: DA
authors.lastname: Morrison
authors.forename: Faye B
authors.initials: FB
authors.lastname: Mellington
authors.forename: Samer
authors.initials: S
authors.lastname: Hamada
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D019882:Blepharoplasty / Q000379:methods*; D001763:Blepharoptosis / Q000188:drug therapy / Q000209:etiology / Q000601:surgery*; D001764:Blepharospasm / Q000188:drug therapy / Q000209:etiology / Q000601:surgery*; D019274:Botulinum Toxins, Type A / Q000008:administration & dosage*; D002648:Child; D006801:Humans; D007273:Injections, Intramuscular; D008297:Male; D009222:Myotonia / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D009465:Neuromuscular Agents / Q000008:administration & dosage*; D009801:Oculomotor Muscles / Q000473:pathology / Q000601:surgery; D010009:Osteochondrodysplasias / Q000150:complications* / Q000188:drug therapy / Q000601:surgery; D017211:Treatment Failure
chemical_list: D009465:Neuromuscular Agents; D019274:Botulinum Toxins, Type A