|Sponsor / Funder||Cooperative International Neuromuscular Research Group (CINRG)|
|CI||Professor Kate Bushby|
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.