RESUMO
INTRODUCTION: Herein we provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD type 1 from 2 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% of subjects had greater than age-related reductions in whole-body BMD (z-score < -2.0). Whole-body and regional BMDs were associated with strength and function. Thirty-six percent had a history of fractures. Likelihood of fractures was reduced for those with normal whole-body BMD (odds ratio = 0.25, 95% confidence interval 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. Muscle Nerve 56: 1108-1113, 2017.
Assuntos
Densidade Óssea/fisiologia , Distrofia Muscular Facioescapuloumeral/diagnóstico por imagem , Distrofia Muscular Facioescapuloumeral/epidemiologia , Absorciometria de Fóton/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Baltimore/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular Facioescapuloumeral/fisiopatologia , New South Wales/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 Minute Walk Test (6MWT) in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: Genetically defined and clinically affected FSHD participants at 2 sites performed the 6MWT, the Timed Up and Go, and the 30 foot Go/Timed 10 meter test as measures of mobility using standard procedures. RESULTS: Eight-six participants representing the full range of severity performed the 6MWT. The mean 6MWT distance was 404.3 meters (SD 123.9), with no difference between sites. The 6MWT was reliable (n = 25; intraclass correlation coefficient = 0.99) and demonstrated moderate to strong correlations with lower extremity strength, functional outcomes, and FSHD Clinical Score. CONCLUSIONS: The 6MWT is reliable and is associated with other measures of FSHD disease severity. Future directions include assessing its sensitivity to disease progression. Muscle Nerve 55: 333-337, 2017.