Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy.

PURPOSE: Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. METHODS: Eleven people with FSHD (47 ± 13 yr, 4 females) and 11 controls (46 ± 13 yr, 4 females) completed one visit, which included a volitional peak oxygen consumption (V̇O2peak) cycling test. Breath-by-breath gas exchange, ventilation, and cardiovascular responses were measured at rest and during exercise. The test featured 3-min stages (speed, 65-70 rpm) with incremental increases in intensity (FSHD: 20 W per stage; control: 40-60 W per stage). Body lean mass (LM (kg, %)) was collected via dual-energy x-ray absorptiometry. RESULTS: V̇O2peak was 32% lower (24.5 ± 9.7 vs 36.2 ± 9.3 mL·kg-1·min-1, P < 0.01), and wattage was 55% lower in FSHD (112.7 ± 56.1 vs 252.7 ± 67.7 W, P < 0.01). When working at a relative submaximal intensity (40% of V̇O2peak), wattage was 55% lower in FSHD (41.8 ± 30.3 vs 92.7 ± 32.6 W, P = 0.01), although ratings of perceived exertion (FSHD: 11 ± 2 vs control: 10 ± 3, P = 0.61) and dyspnea (FSHD: 3 ± 1 vs control: 3 ± 2, P = 0.78) were similar between groups. At an absolute intensity (60 W), the rating of perceived exertion was 63% higher (13 ± 3 vs 8 ± 2, P < 0.01) and dyspnea was 180% higher in FSHD (4 ± 2 vs 2 ± 2, P < 0.01). V̇O2peak was most strongly correlated with resting O2 pulse in controls (P < 0.01, r = 0.90) and percent leg LM in FSHD (P < 0.01, r = 0.88). Among FSHD participants, V̇O2peak was associated with self-reported functionality (FSHD-HI score; activity limitation: P < 0.01, r = -0.78), indicating a strong association between perceived and objective impairments. CONCLUSIONS: Disease-driven losses of LM contribute to exercise intolerance in FSHD, as evidenced by a lower V̇O2peak and elevated symptoms of dyspnea and fatigue during submaximal exercise. Regular exercise participation may preserve LM, thus providing some protection against exercise tolerance in FSHD.

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy.

BACKGROUND: Sarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD). METHODS: The purpose of this study was to determine if adults with FSHD meet criteria for sarcopenic obesity (appendicular lean mass index (ALMI) scores of < 7.26 or 5.45 kg/m2; % fat mass (FM) ≥ 28 or 40% in men/women). Ten people with FSHD (50 ± 11 years, 2 females) and ten age/sex-matched controls (47 ± 13 years, 2 females) completed one visit, which included a full-body dual-energy x-ray absorptiometry (DXA) scan. Regional and whole body total mass, fat mass (FM), and lean mass (LM) were collected and body mass index (BMI) and sarcopenia measures were computed. RESULTS: People with FSHD and controls had a similar whole body total mass (84.5 ± 12.9 vs. 81.8 ± 13.5 kg, respectively, p = 0.65). Though BMI was 2% lower in the FSHD group (p = 0.77), the % FM was 46% higher in FSHD, compared with controls (p < 0.01). In addition, ALM volume was 23% lower (p = 0.02) and ALMI was 27% lower in FSHD compared with controls (p < 0.01). Whole body LM trended to be lower in FSHD vs. controls (p = 0.05), and arm and leg LM were both lower in FSHD compared with controls (p < 0.05). Furthermore, the % LM was 18% lower in FSHD vs. controls (p < 0.01). FSHD participants exhibited greater total body FM (p < 0.01) and total leg FM (p < 0.01), but were similar in volume of total arm FM compared with controls (p = 0.09). CONCLUSION: Findings from this study suggest that people with FSHD, although similar in BMI and total body mass compared with controls, commonly meet the definition of sarcopenic obesity. Adults with co-existing FSHD and sarcopenic obesity may be at risk for significant impairments in quality of life, and encounter additional challenges in the management of FSHD manifestations.