A 3D magnetic resonance imaging (MRI)-based machine learning algorithm is able to detect changes in the diaphragm of patients with Pompe disease, as evidenced in a study published in Magnetic Resonance.

A machine learning algorithm that utilized convolutional neural networks was able to detect small changes in diaphragmatic curvature in Pompe disease patients over time.

After 1 year, Pompe patients had a median change in diaphragm height ratio of 0.04 (range, -0.38 to 1.79) compared to a -0.02 (range, -0.18 to 0.25) in healthy controls (P =.019). The median change in diaphragm area ratio was also significantly different (P =.034) during this time period with Pompe patients having a value of 0.04 (range, -0.28 to 4.40) compared to healthy control with a value of -0.07 (range, -0.27 to 0.39).

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“The increasing ratios in Pompe patients indicate an increased diaphragmatic curvature after 1 year. This corresponds to a more insufficient diaphragmatic contraction and may indicate progressive diaphragmatic dysfunction,” the study’s authors said.

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During subgroup analysis, it was found that diaphragm curvature was significantly increased in nontreated patients with Pompe disease and patients who had been treated with enzyme replacement therapy (ERT) for greater than 3 years compared to healthy controls. The curvature was relatively stable in the healthy controls as well as patients who were undergoing ERT for 3 years or less. Similar results were observed for changes in the diaphragm area ratio.

Patients who had moderate to severe diaphragmatic weakness at baseline had a significant increase in diaphragm curvature after 1 year compared to controls with an increase in diaphragm height ratio of 0.03 (P =.014) and area ratio of 0.04 (P =.04). Patients with no or mild diaphragmatic weakness did not have a significant change over time.

“MRI potentially can be used to identify Pompe patients with still normal standard pulmonary function tests and only minor diaphragmatic abnormalities who might benefit from an early start of ERT,” the authors said.

A total of 30 patients with Pompe disease and 10 healthy controls were included in the study. No significant differences in age, sex, height, or weight were observed between the 2 groups.


Harlaar L, Ciet P, van Tulder G, et al. MRI changes in diaphragmatic motion and curvature in Pompe disease over time. Eur Radiol. Published online July 13, 2022. doi:10.1007/s00330-022-08940-y