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.