Importance of muscle magnetic resonance in thediagnostic approach of muscle pathologies, a casereport

Abstract

Muscle magnetic resonance imaging is a non-invasive method which is gaining importance in the field of neuromuscular pathologies. With this study it is possible to describe patterns of muscle involvement, request genetic studies or select a biopsy site, but it is also used in the assessment of the progression of the disease and is especially useful in case of variants of
uncertain significance as it supports their interpretation. In our center, as in many nationwide, there is no availability of first-hand genetic studies, so the use of available diagnostic methods is of vital importance for final diagnoses. We present the case of a patient with chronic manifestations and no clear diagnosis in whom the magnetic resonance study made it possible to guide the appropriate genetic study to confirm his diagnosis.