Skeletal muscle imaging biomarkers in GNE myopathy


  • Muscle involvement can be monitored, and disease severity determined non-invasively via use of magnetic resonance imaging (MRI) biomarkers in patients with GNE myopathy.

Why this matters

  • GNE myopathy is a rare degenerative disease characterized by slow-to-moderate progressive muscle weakness preferentially in the anterior tibialis, with early adult onset; and while there is no known treatment, any potential therapies will likely be most effective in earlier disease stages, which can be characterized by imaging techniques.

  • MRI biomarkers may constitute a non-invasive surveillance tool for GNE myopathy, both overall, and in clinical trials evaluating potential therapies for these patients.