Quintiero Venere, Crisafulli Oscar, Lacetera Jessica, Bottoni Giorgio, Negro Massimo, Tupler Rossella, Lavaselli Emanuela, D'Antona Giuseppe
CRIAMS-Sport Medicine Centre Voghera, University of Pavia, Voghera 27058, Italy.
Department of Life Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy.
Case Rep Med. 2025 Jul 31;2025:7873892. doi: 10.1155/carm/7873892. eCollection 2025.
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. 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. 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. 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.
面肩肱型肌营养不良症（FSHD）患者会出现去脂体重（FFM）逐渐减少和脂肪量（FM）增加的情况。这种情况可能会导致身体机能受损。个性化饮食与体育锻炼计划相结合，可能会改善身体成分，并有可能减少功能限制。在此，我们介绍一例19岁男性FSHD患者，该患者经过临床和基因特征分析，接受了为期一年的营养和训练干预，旨在对抗疾病引起的身体成分改变及相关负面后遗症。基线评估包括饮食摄入（营养问诊）、身体成分（生物电阻抗分析）、生化参数（血液检查）、静息代谢率（RMR；通过间接测热法测量）、身体机能和生活质量（个体力量疲劳与功能评估慢性疾病治疗疲劳清单）。根据初步检查结果（每日热量摄入不足、亮氨酸分布不当和血糖异常），制定了个性化营养计划（碳水化合物占50%，脂肪和蛋白质各占30%，体重1.5克/千克/天，每餐亮氨酸摄入量为1 - 3克）和补充计划（每日补充11克必需氨基酸），同时制定了体育训练计划，每周进行两次抗阻训练和一次有氧运动。一年后，报告显示身体成分得到改善（FFM增加6.9千克，体细胞质量增加3.3千克，FM减少2.1千克），RMR增加（+309千卡/天），空腹血糖降低（-1.6毫摩尔/升），身体机能感增强（感觉疲劳减轻），生活质量提高。我们的结果表明，量身定制的饮食干预与适当的训练计划相结合，可能是对抗FSHD患者疾病相关身体机能下降的一种有前景的长期策略。这些发现鼓励在更大规模的患者队列中对这种方法进行进一步研究。
