Purpose of review: In this update, we describe recent findings on imaging techniques used for the analysis and quantification of affected muscles, advances in pattern recognition, and quantitative muscle imaging in clinical studies.
Recent findings: Whole-body muscle MRI and meta-analytical approaches, so-called (hierarchical) heat maps of affected muscles are promising advances compared with commonly applied lower leg pattern recognition approaches. Muscle fat fraction assessments measuring chemical shift differences and T2-relaxation times of separated fat and water components in skeletal muscle are currently the most reliable quantitative muscle imaging techniques. Quantitative muscle MRI detects subclinical disease progression in muscular dystrophies and is a powerful surrogate outcome measure in clinical trials.
Summary: Diagnostic and quantitative muscular imaging techniques are increasingly important for diagnostic workup and for interventional studies in patients with inherited myopathies.