Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
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Published:2018-12-08
Issue:5
Volume:90
Page:576-585
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ISSN:0022-3050
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Container-title:Journal of Neurology, Neurosurgery & Psychiatry
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language:en
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Short-container-title:J Neurol Neurosurg Psychiatry
Author:
Alonso-Jimenez AliciaORCID, Kroon Rosemarie H M J M, Alejaldre-Monforte Aida, Nuñez-Peralta Claudia, Horlings Corinne G C, van Engelen Baziel G M, Olivé Montse, González Laura, Verges-Gil Enric, Paradas Carmen, Márquez Celedonio, Garibaldi Matteo, Gallano Pía, Rodriguez Maria José, Gonzalez-Quereda Lidia, Dominguez Gonzalez Cristina, Vissing John, Fornander Freja, Eisum Anne-Sofie Vibæk, García-Sobrino Tania, Pardo Julio, García-Figueiras Roberto, Muelas Nuria, Vilchez Juan Jesús, Kapetanovic Solange, Tasca GiorgioORCID, Monforte Mauro, Ricci Enzo, Gomez María Teresa, Bevilacqua Jorge Alfredo, Diaz-Jara Jorge, Zamorano Ivonne Ingrid, Carlier Robert Yves, Laforet Pascal, Pelayo-Negro Ana, Ramos-Fransi Alba, Martínez Amaia, Marini-Bettolo Chiara, Straub Volker, Gutiérrez Gerardo, Stojkovic Tanya, Martín María Asunción, Morís Germán, Fernández-Torrón Roberto, Lopez De Munaín Adolfo, Cortes-Vicente Elena, Querol LuisORCID, Rojas-García Ricardo, Illa Isabel, Diaz-Manera Jordi
Abstract
Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.MethodsWe present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.ResultsFatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsWe have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.
Funder
Instituto de Salud Carlos III Fondo de Fomento al Desarrollo Científico y Tecnológico
Subject
Psychiatry and Mental health,Neurology (clinical),Surgery
Cited by
39 articles.
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