Lead Sponsor

Centre Hospitalier Universitaire de Nice

Age

18 - 75 years

Sex

ALL

Healthy Volunteers

No

•Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63
•Age 18-75 years
•Symptomatic limb weakness
•Patient able to walk alone or with a walking aid.
•Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles
•Patient affiliated to the social security system
•Patient giving written consent after written and oral information.
•If taking over the counter supplements willing to remain consistent with supplement regimen throughout the course of the study

•Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator)
•Orthopedic conditions that preclude safe testing of muscle function
•Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
•Use of an experimental drug in an FSHD clinical trial within the past 30 days
•Pregnancy.
•Contraindication for muscle MRI
•Any major comorbidity