Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.

Journal of Cachexia, Sarcopenia and Muscle
Claudia Nuñez-PeraltaJordi Díaz-Manera

Abstract

Late-onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme acid alpha-glucosidase. Enzymatic replacement therapy with recombinant human alpha-glucosidase seems to reduce the progression of the disease; although at the moment, it is not completely clear to what extent. Quantitative muscle magnetic resonance imaging (qMRI) is a good biomarker for the follow-up of fat replacement in neuromuscular disorders. The aim of this study was to describe the changes observed in fat replacement in skeletal muscles using qMRI in a cohort of LOPD patients followed prospectively. A total of 36 LOPD patients were seen once every year for 4 years. qMRI, several muscle function tests, spirometry, activities of daily living scales, and quality-of-life scales were performed on each visit. Muscle MRI consisted of two-point Dixon studies of the trunk and thigh muscles. Computer analysis of the images provided the percentage of muscle degenerated and replaced by fat in every muscle (known as fat fraction). Longitudinal analysis of the measures was performed using linear mixed models applying the Greenhouse-Geisser test. We detected a statistically signif...Continue Reading

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Citations

Aug 17, 2020·Current Opinion in Neurology·Claudia Nuñez-PeraltaJordi Díaz-Manera
Nov 7, 2020·Muscle & Nerve·Jordi Díaz-ManeraVolker Straub
Apr 22, 2021·European Radiology·Laís Uyeda AivazoglouArtur da Rocha Corrêa Fernandes
May 26, 2021·Muscle & Nerve·Leon de JongJurgen J Fütterer
Jul 27, 2021·Frontiers in Neurology·Alicia Alonso-JiménezJordi Díaz-Manera

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Clinical Trials Mentioned

NCT01914536

Software Mentioned

Philips
Philips Research Image Development Environment
SPSS
Dixon
Research Image Development Environment tool
R

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