Key result
Lower-extremity MRI measurements of normalized fat content in the entire tibialis anterior muscle strongly predicted molecular signatures in regional biopsies in subjects with FSHD.
Why the study?
Identifying aberrant DUX4 expression as the cause of FSHD spurred therapeutic trials, where MRI features and DUX4-regulated gene expression serve as potential biomarkers of disease activity and progression.
Do MRI characteristics and regional muscle biopsies accurately measure disease progression and molecular signatures in patients with facioscapulohumeral dystrophy?
Population
FSHD subjects
Comparison
Lower-extremity MRI and bilateral muscle biopsies of the tibialis anterior muscles
Authors
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MRI may guide FSHD muscle selection for active disease; leaves open prospective validation as trial biomarkers.
Observational
Do MRI characteristics and regional muscle biopsies accurately measure disease progression and molecular signatures in patients with facioscapulohumeral dystrophy?
MRI characteristics and regional muscle biopsies can serve as accurate biomarkers for whole muscle disease progression in FSHD, supporting their use in clinical trials.
Wong et al. (2024) conducted an observational in Facioscapulohumeral dystrophy (FSHD). Lower-extremity MRI and muscle biopsies was evaluated on Association between MRI characteristics and expression of genes regulated by DUX4. Lower-extremity MRI measurements of normalized fat content in the entire tibialis anterior muscle strongly predicted molecular signatures in regional biopsies in subjects with FSHD.
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