Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

Sebastian Figueroa-Bonaparte, Jaume Llauger, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Paula Montesinos, Javier Sánchez-González, Alicia Alonso-Jiménez, Eduard Gallardo, Isabel Illa, Miguel Angel Barba-Romero, Joseba Barcena, Pilar Carbonell, María Rosario Carzorla, Carlota Creus, Jaume Coll-Cantí, Manuel Díaz, Cristina Domínguez, Roberto Fernández-TorrónMaría José García-Antelo, Josep Maria Grau, Adolfo López De Munáin, Francisco Antonio Martínez-García, Yolanda Morgado, Antonio Moreno, Germán Morís, Miguel Angel Muñoz-Blanco, Andres Nascimento, José Luis Parajua, Arturo Robledo-Strauss, Íñigo Rojas-Marcos, Jose António Salazar, Mercedes Usón, Jordi Díaz-Manera*

*Corresponding author for this work

Research output: Contribution to journalArticleResearch

35 Citations (Scopus)


© 2018 The Author(s). Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. In this study, 32 LOPD patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon and were evaluated at the time of the MRI with several motor function tests and patient-reported outcome measures, and again after one year. Muscle MRI showed a significant increase of 1.7% in the fat content of the thigh muscles in symptomatic LOPD patients. In contrast, there were no noteworthy differences between muscle function tests in the same period of time. We did not observe any significant changes either in muscle MRI or in muscle function tests in asymptomatic patients over the year. We conclude that 3-point Dixon muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in daily clinics.
Original languageEnglish
Article number10898
Publication statusPublished - 1 Dec 2018


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