Advances in research on myoclonus-dystonia syndrome / 中华神经科杂志

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.