Resting metabolic rate in adults with facioscapulohumeral muscular dystrophy

This study aimed to determine whether resting metabolic rate (RMR) is altered in adults with facioscapulohumeral muscular dystrophy (FSHD). Eleven people with FSHD (51 ± 12yrs, 2 females) and 11 controls (48 ± 14 yrs, 2 females) completed 1 visit, including 30-minutes of indirect calorimetry and dual-energy X-ray absorptiometry (DXA) scanning. RMR was calculated from resting oxygen consumption/carbon dioxide production; regional/whole-body fat mass and lean mass were collected from the DXA scan. Absolute RMR was 15% lower in FSHD (p = 0.04); when normalized to regional/local lean mass, no differences in RMR were observed (p > 0.05). Absolute RMR was correlated with total lean mass for all participants combined (p < 0.01, r = 0.70, males only: p < 0.01, r = 0.81) and when analyzed separately (FSHD males: p = 0.001, r = 0.92 and control males: p = 0.004, r = 0.85). Whole-body lean mass was 16% lower in FSHD and leg, arm and appendicular lean mass were lower in FSHD (p < 0.05 for all), though trunk lean mass was not (p = 0.15). Whole-body fat mass was 45% higher in FSHD, with greater leg fat mass (p = 0.01), but not trunk or arm fat mass (p > 0.05 for both). When RMR was expressed relative to lean body mass, no differences in RMR were found, indicating that the lower levels of lean mass observed in FSHD patients likely contribute to the lower absolute RMR values. Novelty: RMR is lower among people with FSHD, as compared with controls. The reduced RMR among people with FSHD is due to disease-related loss in muscle mass and likely related to lower physical activity and/or exercise levels.