Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

This research study is being done to study changes in muscle imaging over time in people with
facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI)
and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study
participants. This research is being done to assess how changes in muscle imaging correspond
to muscle strength and function. Qualified participants will be asked to complete 5 study
visits over 21 months. Each visit will include muscle strength and function testing in
addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome
measures that can be used in future clinical trials for FSHD.

Inclusion Criteria:

- Ability to give written informed consent for study participation (a parent or guardian
will be asked to provide informed consent for participants younger than 18 years old)

- Confirmed diagnosis of FSHD through genetic testing (participants will be asked to
provide copies of genetic testing results)

Exclusion Criteria:

- Any contraindication to MRI scanning

- Inability to complete a physical examination, including strength measurements