Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD or FSH) is characterised by muscle weakness that affects the muscles of the face, shoulders and arms and appears in adolescence or adulthood. This disease is due to a change in the structure of a small region of chromosome 4, the D4Z4 region.


  • NatHis-FSHD: Prospective and Longitudinal Study of the Natural History of patients with Infantile Fascioscapulohumeral dystrophy




Study type RBM-HPS
Trial type Single-site trial
Principal investigator
Sponsor AIM
Fundings AIM
Study status
In preparation
Recruitment status In preparation
Population Adult / Chld