Natural history and biomarkers in Facioscapolo-Humeral Muscular Dystrophy

The project aims at collecting information about natural history and biomarkers of a large group of patients withFacioscapulo-Humeral Muscular Dystrophy (FSHD) using an already existing digital tool, Italian platform Registry for patients with Neuromuscular Diseases- FSHD funded by Telethon. Specifically, all the Italian Centers involved in the care of FSHD patients will collect information about the clinical features of their patients using a schematic definition previously developed by the Italian group for FSHD, the CCEF. Moreover, patients will be fully characterized on the genetic side with a shared protocol between the Centers in order to evaluate possible modifiers. Finally, we will look for the presence of signs of activation of the inflammatory system in the peripheral blood to correlate with the disability levels and the genetic features.