INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD).

METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength and function were explored.

RESULTS: Nearly a third of subjects were deficient in vitamin D3. Mean whole body BMD z-score was -0.7; 11% had greater than age-related reductions in whole body BMD (z-score < -2.0). Whole body and regional BMD were associated with strength and function. Thirty-six percent had a history of fractures. Likelihood for fractures was reduced for those with normal whole body BMD (OR=0.25, 95% CI: 0.04-0.78).

DISCUSSION: A diagnosis of FSHD is not necessarily predictive of reduced BMD or increased fracture rate. Given the considerable variability of bone health in the FSHD population, strength and function can serve as predictors of BMD. This article is protected by copyright.