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Lookup NU author(s): Sebastian Figueroa Bonaparte,
Professor Jordi Diaz ManeraORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 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.
Author(s): Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sanchez-Gonzalez J, Alonso-Jimenez A, Gallardo E, Illa I, Spanish Pompe group, Diaz-Manera J
Publication type: Article
Publication status: Published
Journal: Scientific Reports
Online publication date: 18/07/2018
Acceptance date: 03/07/2018
Date deposited: 25/02/2020
ISSN (electronic): 2045-2322
Publisher: Nature Publishing Group
PubMed id: 30022036
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