title: Schwartz-Jampel syndrome: report of one case.
abstract: We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei.
authors.forename: Ming-Tao
authors.initials: MT
authors.lastname: Yang
authors.forename: Chih-Chao
authors.initials: CC
authors.lastname: Yang
authors.forename: Li-Wen
authors.initials: LW
authors.lastname: Chu
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
authors.forename: Chainllie
authors.initials: C
authors.lastname: Young
authors.forename: Peng-Jung
authors.initials: PJ
authors.lastname: Wang
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D008012:Lidocaine / Q000627:therapeutic use*; D008801:Mexiletine / Q000627:therapeutic use*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D008801:Mexiletine; D008012:Lidocaine