关键词: SGCE基因；　肌阵挛-肌张力障碍综合征；　肢体抽动

Abstract: Objective　To explore the clinical and genetic characteristics of myoclonic-dystonia syndrome (MDS) caused by SGCE gene mutation. Method　The clinical data of myoclonic-dystonia in a child was retrospectively analyzed and the related literature was reviewed. Results　A 3-year-old boy had onset at 1.5 years old. The main clinical manifestations were paroxysmal limb twitch, walking instability, posture disorder and dyskinesia, and there were no abnormalities in intelligence, language and emotion. Repeated cranial magnetic resonance imaging, electroencephalogram and hematuria metabolism screening showed no abnormality. A splicing mutation of c.1037+1G>A in SGCE gene was found by whole exon sequencing. It’s a new mutation and had not been reported at home and abroad. The diagnosis of SGCE myoclonic-dystonia was confirmed, and the treatment with zonisamide was effective. Conclusion　The newly discovered c.1037+1G>A mutation of the SGCE gene can cause myoclonus-dystonia, and zonisamide is the first choice.

Key words: SGCE gene;　myoclonic -dystonia syndrome;　limb twitch