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<p>Facioscapulohumeral muscular dystrophy (FSHD) is a progressive inherited myopathy characterized by muscle weakness, fatty infiltration, and consequent reduction in functional capacity. In this context, physical exercise (PE) has been proposed as a non-pharmacological strategy aimed at preserving physical efficiency. However, its prescription in FSHD has historically been approached with caution due to concerns regarding overwork weakness and potential exacerbation of muscle damage. As a result, clinical management has often remained conservative, with limited and non-standardized PE recommendations. Nevertheless, physical inactivity may further contribute to deconditioning, loss of autonomy, and deterioration in quality of life, highlighting a clear tension between perceived risk and potential benefit. In this framework, identifying safe and effective PE strategies represents a central unmet need in FSHD care. Possibly due to disease rarity and historical concerns, the available literature on PE in FSHD remains fragmented, limiting the strength of definitive conclusions. A structured synthesis of existing evidence may help clarify feasible and potentially effective exercise modalities, as well as guide the development of optimized intervention strategies. This review critically examines the current evidence on PE in FSHD, with specific reference to aerobic, anaerobic, and combined training interventions. The potential synergistic role of concomitant nutritional strategies is also considered. The critical analysis highlights exercise modalities that appear more consistently safe and potentially beneficial, while underscoring substantial methodological limitations across studies. Finally, emerging concepts in exercise tailoring are discussed, with the aim of addressing the clinical variability of FSHD and informing future prospective, controlled investigations.</p>

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Physical exercise in facioscapulohumeral muscular dystrophy: state of the art and future challenges beyond common misconceptions

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月2日

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  • Oscar Crisafulli,
  • Matteo Fortunati,
  • Fabrizio Brindisi,
  • Andi Nuredini,
  • Stefano Palermi,
  • Rossella Tupler,
  • Nicoline Voet,
  • Anna Odone,
  • Giuseppe D’Antona

摘要

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive inherited myopathy characterized by muscle weakness, fatty infiltration, and consequent reduction in functional capacity. In this context, physical exercise (PE) has been proposed as a non-pharmacological strategy aimed at preserving physical efficiency. However, its prescription in FSHD has historically been approached with caution due to concerns regarding overwork weakness and potential exacerbation of muscle damage. As a result, clinical management has often remained conservative, with limited and non-standardized PE recommendations. Nevertheless, physical inactivity may further contribute to deconditioning, loss of autonomy, and deterioration in quality of life, highlighting a clear tension between perceived risk and potential benefit. In this framework, identifying safe and effective PE strategies represents a central unmet need in FSHD care. Possibly due to disease rarity and historical concerns, the available literature on PE in FSHD remains fragmented, limiting the strength of definitive conclusions. A structured synthesis of existing evidence may help clarify feasible and potentially effective exercise modalities, as well as guide the development of optimized intervention strategies. This review critically examines the current evidence on PE in FSHD, with specific reference to aerobic, anaerobic, and combined training interventions. The potential synergistic role of concomitant nutritional strategies is also considered. The critical analysis highlights exercise modalities that appear more consistently safe and potentially beneficial, while underscoring substantial methodological limitations across studies. Finally, emerging concepts in exercise tailoring are discussed, with the aim of addressing the clinical variability of FSHD and informing future prospective, controlled investigations.