Key result
MRI detects muscle edema in ~82% of ANO5 myopathy cases despite rare biopsy inflammation.
Why the study?
Mutations in ANO5 commonly cause muscular dystrophy, and the study investigated whether inflammatory changes in muscle are present on muscle biopsy and muscle MRI.
Are inflammatory changes present in muscle biopsies and MRI of patients with ANO5 myopathy?
Population
24 adults with pathogenic variations in ANO5
Design
Retrospective biopsy review and prospective muscle MR STIR imaging cohort
Authors
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Muscle edema on MRI may aid ANO5 myopathy assessment; leaves open inflammatory mechanisms and need for prospective validation.
Cross-Sectional (n=27)
No
Are inflammatory changes present in muscle biopsies and MRI of patients with ANO5 myopathy?
Muscle edema is common on MRI in patients with ANO5 myopathy, and some exhibit inflammatory changes on muscle biopsy.
Holm‐Yildiz et al. (2021) conducted a cross-sectional in ANO5-related myopathy (n=27). Muscle MRI and biopsy was evaluated on Presence of STIR hyperintensities on muscle MRI. In patients with ANO5 myopathy, muscle edema was detected by MRI in 82% (14 of 17) of cases, while inflammatory changes were present in 13% (3 of 24) of muscle biopsies.
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