RT Journal Article
T1 Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
A1 Diaz-Manera, Jordi
A1 Fernandez-Torron, Roberto
A1 LLauger, Jaume
A1 James, Meredith K
A1 Mayhew, Anna
A1 Smith, Fiona E
A1 Moore, Ursula R
A1 Blamire, Andrew M
A1 Carlier, Pierre G
A1 Rufibach, Laura
A1 Mittal, Plavi
A1 Eagle, Michelle
A1 Jacobs, Marni
A1 Hodgson, Tim
A1 Wallace, Dorothy
A1 Ward, Louise
A1 Smith, Mark
A1 Stramare, Roberto
A1 Rampado, Alessandro
A1 Sato, Noriko
A1 Tamaru, Takeshi
A1 Harwick, Bruce
A1 Rico Gala, Susana
A1 Turk, Suna
A1 Coppenrath, Eva M
A1 Foster, Glenn
A1 Bendahan, David
A1 Le Fur, Yann
A1 Fricke, Stanley T
A1 Otero, Hansel
A1 Foster, Sheryl L
A1 Peduto, Anthony
A1 Sawyer, Anne Marie
A1 Hilsden, Heather
A1 Lochmuller, Hanns
A1 Grieben, Ulrike
A1 Spuler, Simone
A1 Tesi Rocha, Carolina
A1 Day, John W
A1 Jones, Kristi J
A1 Bharucha-Goebel, Diana X
A1 Salort-Campana, Emmanuelle
A1 Harms, Matthew
A1 Pestronk, Alan
A1 Krause, Sabine
A1 Schreiber-Katz, Olivia
A1 Walter, Maggie C
A1 Paradas, Carmen
A1 Hogrel, Jean-Yves
A1 Stojkovic, Tanya
A1 Takeda, Shin'ichi
A1 Mori-Yoshimura, Madoka
A1 Bravver, Elena
A1 Sparks, Susan
A1 Bello, Luca
A1 Semplicini, Claudio
A1 Pegoraro, Elena
A1 Mendell, Jerry R
A1 Bushby, Kate
A1 Straub, Volker
A1 Jain COS Consortium, 
K1 dysferlinopathy
K1 muscle MRI
K1 muscular dystrophy
K1 outcome measures
AB 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. 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. 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. 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. NCT01676077.
YR 2018
FD 2018-05-07
LK http://hdl.handle.net/10668/12432
UL http://hdl.handle.net/10668/12432
LA en
DS RISalud
RD Apr 18, 2025