Abstract
Background/Objectives: Facioscapulohumeral dystrophy (FSHD) patients experience a progressive loss of fat free mass (FFM) and increase of fat mass (FM). Such an occurrence may lead to an impaired physical efficiency. A personalized diet, combined with a physical exercise program, may improve body composition, and potentially reduce functional limitations. Here, we present the case of a nineteen-years-old male clinically and genetically characterized FSHD patient who underwent a one-year nutritional and training intervention aimed at contrasting the disease-induced body composition modifications and associated negative sequelae. Methods: Baseline assessments included dietary intake (nutritional anamnesis), body composition (bioimpedance analysis), biochemical parameters (blood tests), resting metabolic rate (RMR; measured by indirect calorimetry), physical efficiency, and quality of life (Checklist Individual Strength Fatigue and Functional Assessment Chronic Illness Therapy Fatigue). Based on the initial findings (insufficient daily caloric intake, inadequate leucine distribution, and nonphysiological glycemia), a personalized nutritional (50% carbohydrates, 30% fats and proteins at 1.5 g/kg of body weight/day, with leucine intake of 1-3 g per meal) and supplementation (11 g/day of essential amino acids) plan was prescribed, alongside a physical training program composed by two resistance and one aerobic exercise sessions per week. Results: After one year, improvements in body composition (FFM +6.9 kg, body cell mass +3.3 kg, FM -2.1 kg), RMR (+309 kcal/day), fasting glycemia (-1.6 mmol/L), perceived physical efficiency (diminished perceived fatigue), and quality of life were reported. Conclusions: Our results suggest that a tailored dietary intervention, when combined with an appropriate training program, could represent a promising long-term strategy for contrasting disease-related physical deconditioning in FSHD. These findings encourage further research on this approach in a larger cohort of patients.