Natural History Studies – Neuromuscular Research Center

ACH0311: A multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy.

Principal Investigator

Craig McDonald, M.D.


Evan de Bie, B.S., C.C.R.P.

Study Details

Brief Summary
The purpose of this study is to establish a common method to test muscles in individuals with infantile onset (iFSHD, diagnosed at <11 years of age).  This study will also look at how iFSHD affects other parts of the body and how it affects quality of life for people living with this health condition. Finally, this study will explore biological variations in individuals that may affect their clinical symptoms.


There are no interventions for this study. We call these studies "Natural History Studies."


Inclusion Criteria:

Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination:

  • Onset of symptoms involving the facial or shoulder girdle muscles, and
  • Autosomal dominant inheritance in familial cases, and
  • Contraction of the D4Z4 repeat array from 1–10 (10 – 38 kb) copies in the 4q35 subtelomeric region, based on molecular genetics

In addition, the severe infantile onset FSHD participants will be identified based on one or more of the following features:

  • Signs and symptoms of facial weakness < 5 years of age
  • Sign and symptoms of shoulder girdle weakness < 10 years of age
  • Wheelchair dependency (> 50% of the time) before 18 years of age
  • ≤ 4 copies (< 15 kb) of the D4Z4 repeat array

Exclusion Criteria:

  • Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol
  • Maternal mode of inheritance
  • Evidence of an alternative diagnosis based on muscle biopsy or other available investigations

Recruitment Status

Currently Recruiting