TY - JOUR T1 - Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry DO - 10.1136/jnnp-2017-317488 SP - jnnp-2017-317488 AU - Jordi Diaz-Manera AU - Roberto Fernandez-Torron AU - Jaume LLauger AU - Meredith K James AU - Anna Mayhew AU - Fiona E Smith AU - Ursula R Moore AU - Andrew M Blamire AU - Pierre G Carlier AU - Laura Rufibach AU - Plavi Mittal AU - Michelle Eagle AU - Marni Jacobs AU - Tim Hodgson AU - Dorothy Wallace AU - Louise Ward AU - Mark Smith AU - Roberto Stramare AU - Alessandro Rampado AU - Noriko Sato AU - Takeshi Tamaru AU - Bruce Harwick AU - Susana Rico Gala AU - Suna Turk AU - Eva M Coppenrath AU - Glenn Foster AU - David Bendahan AU - Yann Le Fur AU - Stanley T Fricke AU - Hansel Otero AU - Sheryl L Foster AU - Anthony Peduto AU - Anne Marie Sawyer AU - Heather Hilsden AU - Hanns Lochmuller AU - Ulrike Grieben AU - Simone Spuler AU - Carolina Tesi Rocha AU - John W Day AU - Kristi J Jones AU - Diana X Bharucha-Goebel AU - Emmanuelle Salort-Campana AU - Matthew Harms AU - Alan Pestronk AU - Sabine Krause AU - Olivia Schreiber-Katz AU - Maggie C Walter AU - Carmen Paradas AU - Jean-Yves Hogrel AU - Tanya Stojkovic AU - Shin’ichi Takeda AU - Madoka Mori-Yoshimura AU - Elena Bravver AU - Susan Sparks AU - Luca Bello AU - Claudio Semplicini AU - Elena Pegoraro AU - Jerry R Mendell AU - Kate Bushby AU - Volker Straub A2 - , Y1 - 2018/05/04 UR - http://jnnp.bmj.com/content/early/2018/05/06/jnnp-2017-317488.abstract N2 - Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.Methods We present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed.Results In 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialis and the soleus being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment.Conclusions The information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials.Clinical trial registration NCT01676077. ER -