摘要：

面-肩-肱型肌营养不良症（FSHD）是临床常见遗传性肌肉病，分为 FSHD1 型和 FSHD2 型。Southern blotting 法是 FSHD1 型常用诊断方法，分子梳技术是更为简便易行的新兴检测方法。推测FSHD 发病机制可能与复杂的遗传学和表观遗传学因素有关，以 DUX4 基因表达异常为较公认的分子学机制，而 4q 区域 D4Z4 串联重复序列整倍缺失亦参与其发生与发展。目前尚无特异性治疗方法，针对发病机制的精准治疗如毒性 DUX4蛋白清除的新兴治疗方法已取得一定进展。

关键词: 肌营养不良, 面肩肱型, 分子诊断技术, 综述

Abstract:

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly applied in the diagnosis of FSHD1, and molecular combing (MC) is a novel and simple one. The pathogenesis of FSHD is not yet fully understood, and recent studies have found that it is associated with complex genetic and epigenetic causes. At present, the most recognized molecular mechanism for FSHD is the abnormal expression of DUX4 gene. In addition, the abnormal epigenetic changes in the D4Z4 tandem repeat sequence of 4q region were involved in the pathogenesis of FSHD. There is no cure for FSHD, and some progress has been made in some precise treatment methods for its pathogenesis, such as toxic DUX4 protein removal. In this paper, the diagnosis, pathogenesis and treatment history of FSHD are summarized, so that readers understand the history and present situation of FSHD research.

Key words: Muscular dystrophy, facioscapulohumeral, Molecular diagnostic techniques, Review