The history of research on facioscapulohumeral muscular dystrophy

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.

DOI: 10.3969/j.issn.1672-6731.2019.05.003