Advances in research on myoclonus-dystonia syndrome
10.3760/cma.j.cn113694-20191025-00658
- VernacularTitle:肌阵挛-肌张力障碍综合征的研究进展
- Author:
Yanghong LI
1
;
Beisha TANG
;
Jifeng GUO
Author Information
1. 中南大学湘雅医院神经内科，长沙 410008
- From:
Chinese Journal of Neurology
2020;53(7):552-558
- CountryChina
- Language:Chinese
-
Abstract:
Myoclonus-dystonia syndrome (MDS) is a special type of dystonia-plus syndromes. It is an autosomal-dominant movement disorder syndrome characterized by myoclonus and dystonia and accompanied by certain mental symptoms. The disorder usually occurs in childhood. Myoclonus and dystonia are usually involved in upper limbs, trunk and neck. The main pathogenic gene of MDS is ε-sarcoglycan gene (SGCE). Up to date, the mechanism that how this gene leads to the disease is not clear. The continuous progress of MDS can cause disability and bring great pain to patients and their families. In recent years, significant progress has been made in the research of this disease. This article will systematically review the pathogenesis, clinical phenotype, genetics, diagnostic criteria, differential diagnosis and treatment of MDS.
