Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in
20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem …

Abstract Introduction/Aims As promising therapeutic interventions are tested among patients
with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and …

Background The natural history of facioscapulohumeral muscular dystrophy (FSHD) is
undefined. Methods An observational cohort study was conducted in 246 FSHD1 patients …

On April 23rd (Session 1–4) and May 7th 2021 (Session 5–7), the first meeting of the
Facioscapulohumeral muscular dystrophy (FSHD) European Trial Network (ETN) took place …

Background and objectives Facioscapulohumeral muscular dystrophy (FHSD) is a
debilitating inherited muscle disease for which various therapeutic strategies are being …

Purpose The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy–
Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating …

This ENMC workshop has seen the participation of many important stakeholders working
together to improve trial readiness in FSHD: patients and patients' organizations (FSHD …

Background Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular
disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 …

Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular
disorder and currently lacks a pharmaceutical treatment. The Dutch FSHD Registry was …