Neuromuscular diseases (NMD) form a large group of individually rare diseases that are present in all populations and affect people of all ages. Many of them result in chronic disability, posing a significant healthcare burden for society. Diagnosis and therapy development for NMD has rapidly expanded in recent years and there is an urgent need to develop objective, non-invasive outcome measures to monitor disease progression and treatment effect. The use of novel magnetic resonance imaging and spectroscopy techniques (MRI and MRS) applied to NMD is showing increasing promise in this regard, but progress has been hindered by the rarity of the conditions and lack of options for pooling data from different groups.
This COST Action will overcome the main hurdles to rollout of MR techniques by sharing expertise and data, validating protocols across platforms and exploring the potential of MRI and MRS as a helpful diagnostic tool and a quantitative outcome measure in NMD clinical trials. The objectives of standardizing applications of MRI and MRS in NMD, training of early stage researchers and the development of an online atlas of neuromuscular imaging will enhance knowledge of scientists and healthcare professionals and ultimately benefit patients with NMD.