Schwartz-Jampel syndrome: Report of one case
Journal
Acta Paediatrica Taiwanica
Journal Volume
43
Journal Issue
4
Pages
220-223
Date Issued
2002
Author(s)
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.
Subjects
Mexiletine; Myotonia; Schwartz-Jampel syndrome
SDGs
Other Subjects
lidocaine; mexiletine; article; case report; clinical feature; disease course; electromyography; female; human; muscle stiffness; myotonia; preschool child; Schwartz Jampel syndrome; Child, Preschool; Female; Humans; Lidocaine; Mexiletine; Osteochondrodysplasias
Type
journal article