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

Scientific Reports
Sebastián Figueroa-BonaparteJordi Díaz-Manera

Abstract

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.

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Citations

Dec 12, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Alicia Alonso-JimenezJordi Diaz-Manera
Mar 5, 2020·Journal of Cachexia, Sarcopenia and Muscle·Claudia Nuñez-PeraltaJordi Díaz-Manera
Jan 9, 2020·The Journal of Clinical Endocrinology and Metabolism·Luciana Martel-DuguechElena Valassi
Aug 4, 2020·Aging·Simona TavernaGiovanni Duro
Aug 17, 2020·Current Opinion in Neurology·Claudia Nuñez-PeraltaJordi Díaz-Manera
Sep 30, 2020·Seminars in Musculoskeletal Radiology·Marc-André WeberMike P Wattjes
Feb 16, 2019·Scientific Reports·Esther Fernández-SimónJordi Díaz-Manera
Jul 30, 2019·Annals of Clinical and Translational Neurology·Ana Carrasco-RozasEduard Gallardo
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Aug 6, 2019·Molecular Genetics and Metabolism·Esther Fernández-SimónJordi Díaz-Manera
Nov 7, 2020·Muscle & Nerve·Jordi Díaz-ManeraVolker Straub
Jul 27, 2021·Frontiers in Neurology·Alicia Alonso-JiménezJordi Díaz-Manera
Nov 3, 2021·Scientific Reports·Martin A BelzunceAlister Hart
Nov 10, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Matteo GaribaldiGiovanni Antonini

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Methods Mentioned

BETA
chemical exchange saturation transfer

Clinical Trials Mentioned

NCT01914536

Software Mentioned

ACTIVLIM
Dixon
PRIDE
SPSS® Statistics
PRIDE Image Development Environment

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