Yang M.-T.CHIH-CHAO YANGChu L.-W.WANG-TSO LEEYoung C.Wang P.-J.2021-06-112021-06-1120021608-8115https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036630717&partnerID=40&md5=2d535a5f11cdf990ec4c4d638819fecbhttps://scholars.lib.ntu.edu.tw/handle/123456789/565486We 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.Mexiletine; Myotonia; Schwartz-Jampel syndrome[SDGs]SDG3lidocaine; 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; Osteochondrodysplasiasjournal article122389122-s2.0-0036630717