International FSHD Day: Where Does Research Stand?

A rare genetic disorder, yet one of the most common muscular dystrophies, facioscapulohumeral muscular dystrophy (FSHD) affects approximately 5 to 12 people per 100,000. It leads to progressive muscle weakness in the face (difficulty puffing cheeks or smiling), shoulders (difficulty raising arms, brushing hair), and sometimes legs (trouble walking or climbing stairs). The severity and symptoms can vary significantly from one person to another, even within the same family. Still relatively unknown to the general public, this condition currently has no curative treatment.

Thanks to the discovery of the central role played by the DUX4 gene in the disease, several international clinical trials are now evaluating innovative strategies to block its expression or mitigate its effects. Other approaches aim to reduce inflammation and cellular stress. In parallel, the identification of blood biomarkers could, in the future, help better predict the severity and progression of the disease.

Looking for a Comprehensive Overview of Research Progress?

Clinical trials, new therapeutic strategies, ongoing clinical studies, recent publications, research updates... The 2025 edition of Research Advances in FSHD is now available. It offers an overview of key medical and scientific updates on FSHD published over the past 12 months.

Access the publication now

From basic research to clinical trials, AFM-Téléthon plays a pivotal role in advancing knowledge and accelerating the development of treatments. It funds innovative research programs, organizes calls for projects in France and abroad, supports the implementation of clinical databases—such as the French National Registry for individuals living with FSHD—and promotes the structuring of research networks.