MRI is a helpful tool for monitoring disease progression in late‐onset Pompe disease (LOPD). Our study aimed to evaluate if muscle diffusion tensor imaging (mDTI) shows alterations in muscles of LOPD patients with <10% fat‐fraction. We evaluated 6 thigh and 7 calf muscles (both legs) of 18 LOPD and 29 healthy controls (HC) with muscle diffusion tensor imaging (mDTI), T1w, and mDixonquant sequences in a 3T MRI scanner. The quantitative mDTI‐values axial diffusivity (λ₁), mean diffusivity (MD), radial diffusivity (RD), and fractional anisotropy (FA) as well as fat‐fraction were analyzed. 6‐Minute Walk Test (6‐MWT) data were correlated to diffusion metrics. We found that mDTI showed significant differences between LOPD and HC in diffusion parameters (P < .05). Thigh muscles with <10% fat‐fraction showed significant differences in MD, RD, and λ_1‐3. MD positively correlated with 6‐MWT (P = .06). To conclude, mDTI reveals diffusion restrictions in muscles of LOPD with and without fat‐infiltration and reflects structural changes prior to fatty degeneration.

中文翻译：

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扩散张量成像揭示了晚期庞贝病中非脂肪浸润肌肉的变化。

MRI是监测晚期庞贝病（LOPD）疾病进展的有用工具。我们的研究旨在评估肌肉扩散张量成像（mDTI）是否显示脂肪分数小于10％的LOPD患者的肌肉改变。我们在3T MRI扫描仪中通过肌肉扩散张量成像（mDTI），T1w和mDixonquant序列评估了18个LOPD的29条大腿和7条小腿肌肉（两条腿）和29位健康对照（HC）。定量mDTI值轴向扩散率（λ ₁），平均扩散率（MD），径向扩散率（RD），和分数各向异性（FA）以及脂肪级分进行分析。6分钟步行测试（6-MWT）数据与扩散指标相关。我们发现mDTI在LOPD和HC之间在扩散参数上显示出显着差异（P<.05）。<10％脂肪的馏分大腿肌肉显示出MD，RD显著差异，和λ _1-3。MD与6-MWT正相关（P = .06）。总而言之，mDTI揭示了有或没有脂肪浸润的LOPD肌肉中的扩散限制，并反映了脂肪变性之前的结构变化。