Diaphragm involvement in Pompe disease more clearly visualized on imaging

The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen.

Dutch researchers studied this respiratory muscle in 30 patients with Pompe disease, treated or not, at a one-year interval, by imaging (3D MRI), the data obtained being compared to those of a control group.

  • The curvature of the diaphragm seems to deteriorate with time, even over such a short interval, and all the more so as the patient is not treated by enzyme replacement therapy (ERT).
  • Once the muscle has deteriorated, the effect seems irreversible.

This study confirms the interest of ERT on diaphragmatic function provided that it is initiated early.


MRI changes in diaphragmatic motion and curvature in Pompe disease over time. Harlaar L, Ciet P, van Tulder G et al. Eur Radiol. 2022 Jul 13.