Queen Square Centre for Neuromuscular Diseases


A multicentre collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy (FSHD)

Sponsor / Funder Cooperative International Neuromuscular Research Group (CINRG)
CI Professor Kate Bushby
Sites Newcastle
Contact details becky.davis@ncl.ac.uk

This is a multi-centre, cross-sectional study of child FSHD. It is conducted at participating US and International CINRG sites.


50 patients with infantile onset (diagnosed at <11 years of age) and genetically confirmed FSHD. This will include:

  • children and youth (less than 18 years old) with FSHD who are currently followed in children's neuromuscular centres,
  • adults with FSHD identified as having infantile onset of disease


25 patients with early infantile onset (<5 years) and 25 with late infantile onset (5 to 10 years) of FSHD.

Primary objective: to compare early and late infantile onset clinical phenotypes and health-related outcomes.