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Background  Specific force, that is the amount of force generated per unit of muscle tissue, is reduced in patients with facioscapulohumeral muscular dystrophy (FSHD). The causes of reduced specific force and its relation with FSHD disease severity are unknown.    Methods  Quantitative muscle magnetic resonance imaging (MRI), measurement of voluntary maximum force generation and quadriceps force‐frequency relationship, and vastus lateralis muscle biopsies were performed in 12 genetically confirmed patients with FSHD and 12 controls.    Results  Specific force was reduced by ~33% in all FSHD patients independent of disease severity. Quadriceps force‐frequency relationship shifted to the right in severe FSHD compared to controls. Fiber type distribution in vastus lateralis muscle biopsies did not differ between groups.    Conclusions  Reduced quadriceps specific force is present in all FSHD patients regardless of disease severity or fatty infiltration. Early myopathic changes, including fibrosis, and non‐muscle factors, such as physical fatigue and musculoskeletal pain, may contribute to reduced specific force.

Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy