Applications of MRI in muscle diseases

摘要

In recent years magnetic resonance imaging (MRI) and spectroscopy (MRS) have increased in prominence in the neuromuscular field owing both to their utility in the diagnostic workup of patients with neuromuscular conditions and their promise as a quantitative and non-invasive outcome measure in clinical studies.Although the standard diagnostic pathway in neuromuscular disease (NMD) has largely moved on from muscle" biopsy analysis to genetics, mutation analysis remains' complex owing to the large numbers of genes involved and the challenges of the latest generation of sequencing techniques, which are still not yet in routine use and which produce vast amounts of data that are impossible to analyze without guidance from the phenotype, as the large numbers of variants found in every patient require interpretation of clinical relevance to discover the pathogenic change.