Key result
A 12-point muscle pathology grade from quadriceps biopsies correlated moderately with clinical severity score (rho = 0.53, P < 0.001), genetic mutation, disease duration, and quantitative myometry.
Why the study?
Does a 12-point muscle pathology grade correlate with clinical and genetic markers of disease severity in patients with facioscapulohumeral muscular dystrophy?
Population
74 genetically confirmed facioscapulohumeral muscular dystrophy participants
Design
Cross-sectional
Authors
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Supports biopsy grading for FSHD trial stratification; leaves open prospective validation of clinical utility.
Cross-Sectional (n=74)
Does a 12-point muscle pathology grade correlate with clinical and genetic markers of disease severity in patients with facioscapulohumeral muscular dystrophy?
Effect estimate: rho = 0.53
p-value: p=<0.001
A 12-point muscle pathology grade of quadriceps biopsies correlates moderately with clinical severity and genetic mutation in FSHD, suggesting utility for patient stratification in clinical trials.
Statland et al. (2015) conducted a cross-sectional in Facioscapulohumeral muscular dystrophy (FSHD) (n=74). 12-point muscle pathology grade was evaluated on Correlation of muscle pathology grade with clinical severity score (rho = 0.53, p=<0.001). A 12-point muscle pathology grade from quadriceps biopsies correlated moderately with clinical severity score (rho = 0.53, P < 0.001), genetic mutation, disease duration, and quantitative myometry.
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