Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant skeletal muscle disease with an estimated prevalence of 12/100,000 [1] for which there is currently no cure. The condition is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite region at chromosome 4q35, alongside a permissive 4qA haplotype in cis encoding a polyadenylation signal [2]. Epigenetic deregulation occurs either via truncation of the D4Z4 region to between 1-10 repeats (FSHD1) [3] or by mutation in chromatin remodelling genes (FSHD2), mainly SMCHD1 [4], with DNMT3B [5] also recently identified.

Source: Neuromuscular Disorders - March 11, 2020 Category: Neurology Authors: Christopher R.S. Banerji, Phillip Cammish, Teresinha Evangelista, Peter S. Zammit, Volker Straub, Chiara Marini-Bettolo Source Type: research