• Alicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, Claudia Nuñez-Peralta, Horlings Corinne G C CGC Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands., van Engelen Baziel G M BGM Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands., Montse Olivé, Laura González, Enric Verges-Gil, Carmen Paradas, Celedonio Márquez, Matteo Garibaldi, Pía Gallano, Maria José Rodriguez, Lidia Gonzalez-Quereda, Cristina Dominguez Gonzalez, John Vissing, Freja Fornander, Anne-Sofie Vibæk Eisum, Tania García-Sobrino, Julio Pardo, Roberto García-Figueiras, Nuria Muelas, Juan Jesús Vilchez, Solange Kapetanovic, Giorgio Tasca, Mauro Monforte, Enzo Ricci, María Teresa Gomez, Jorge Alfredo Bevilacqua, Jorge Diaz-Jara, Ivonne Ingrid Zamorano, Robert Yves Carlier, Pascal Laforet, Ana Pelayo-Negro, Alba Ramos-Fransi, Amaia Martínez, Chiara Marini-Bettolo, Volker Straub, Gerardo Gutiérrez, Tanya Stojkovic, María Asunción Martín, Germán Morís, Roberto Fernández-Torrón, Adolfo Lopez De Munaín, Elena Cortes-Vicente, Luis Querol, Ricardo Rojas-García, Isabel Illa, and Jordi Diaz-Manera.
• Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.
• J. Neurol. Neurosurg. Psychiatr. 2019 May 1; 90 (5): 576-585.

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.© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

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