Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy

Facioscapulohumeral dystrophy (FSHD) leads to progressive changes in body composition such as loss of muscle mass and increase in adiposity. In healthy subjects, anthropometric parameters are associated with the maximum volume of oxygen consumed per minute (VO₂max), which is a health and function indicator in several populations of subjects, both healthy and pathological. Since VO₂max can be difficult to test in patients with FSHD due to exercise intolerance, the identification of associated anthropometric parameters could provide new easily obtainable elements for the patients' clinical stratification. The aim of this study was to evaluate whether anthropometric and body composition parameters are associated with VO₂max in patients with FSHD. A total of 22 subjects with a molecular genetics-based diagnosis of FSHD (6 females, 16 males, mean age of 35.18 years) were recruited for the study. VO₂max was measured by cardiopulmonary exercise tests (CPETs) on a cycle ergometer, utilizing a step incremental technique (15 Watts (W) every 30 s). Weight (Kg) and height (m) were obtained and utilized to calculate body mass index (BMI). Body composition parameters (fat mass (FM), fat free mass (FFM), and body cell mass (BCM)) were obtained by bioelectrical impedance analysis (BIA). Significant negative associations were found between VO₂max and FM (Spearman correlation coefficient (SCC) -0.712), BMI (SCC -0.673), age (SCC -0.480), and weight (SCC -0.634), unlike FFM and BCM. Our results indicate that FM, BMI, age, and body weight are negatively associated with VO₂max in patients with FSHD. This evidence may help practitioners to better stratify patients with FSHD.