Presented by

Dr. Volker Straub

Over the past years magnetic resonance imaging (MRI) has become more widely used in patients with genetic muscle diseases because the extent and localisation of muscle pathology can provide useful information for the diagnostic workup of patients and insight into pathophysiology and disease progression. Various groups have now reported their experience with muscle MRI in defined patient cohorts and have started to delineate specific patterns of muscle pathology. In a number of diseases the pattern of muscle pathology detected by MRI can almost be pathognomonic and can guide genetic testing. This has been shown for various congenital myopathies, muscular dystrophies and later onset muscle diseases. The improved diagnostic characterisation of patients with NMD has also contributed to the development of new therapeutic approaches for these rare diseases. Due to the lack of more objective outcome measures, current clinical trials use endpoints that depend on the physical ability and cooperation of patients. The limited number of sensitive outcome measure and the need to avoid invasive techniques in a population with compromised muscle function makes MRI particularly attractive as a tool for patient assessment. To maximise the potential of MRI techniques and their application in clinical trials, a coordinated international approach to validate and implement agreed protocols across trial sites is therefore necessary. The benefit of this concept is reflected in increased interest in quantitative MR from the pharmaceutical industry and recommendations from regulatory bodies to include these techniques in trial protocols.