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.

中文翻译：

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通过肌肉磁共振成像对晚发庞贝病患者进行随访，发现骨骼肌中脂肪替代量增加。


晚发性庞贝病 (LOPD) 是一种遗传性疾病，其特征是由于酸性 α-葡萄糖苷酶缺乏而导致骨骼肌进行性退化。使用重组人 α-葡萄糖苷酶进行酶替代疗法似乎可以减缓疾病的进展；尽管目前尚不完全清楚到什么程度。定量肌肉磁共振成像（qMRI）是神经肌肉疾病脂肪替代随访的良好生物标志物。本研究的目的是描述前瞻性随访的一组 LOPD 患者中使用 qMRI 观察到的骨骼肌脂肪替代变化。