M Mode Ultrasound and Tissue Doppler Imaging to Assess Diaphragm Feature in Late Onset Pompe Disease

Abstract

Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disease. Clinical features include skeletal muscle deficiency and diaphragm weakness. Clinical management relies on supportive treatment and mechanical ventilation in patients with chronic respiratory failure. M mode ultrasound and sniff tissue Doppler imaging can be used to assess and follow diaphragm function.

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

“…Prior ultrasonographic assessments of tongue musculature indicated worsening fibrofatty replacement of muscles and increased EI of tongue musculature with LOPD when compared to healthy controls [ 20 ]. Multiple studies have identified ultrasonographic evidence of diaphragm involvement in LOPD, assessing diaphragm excursion, thickness at functional residual capacity, and thickness at total lung capacity but EI was not assessed in these studies [ [21] , [22] , [23] , [24] ]. Future studies may include ultrasonographic measurement of EI in the diaphragm, but technical difficulties of imaging such a thin muscle may complicate assessments.…”

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

“…Noninvasive simple and reproducible ultrasound and tissue Doppler imaging of the diaphragm also provide an ability to monitor and assess vital diaphragm function in PD patients. 11,[57][58][59] Classically, the drop of VC from upright to supine position is an indirect measure of diaphragm weakness, however, diaphragm weakness characterized by a paradoxical motion during a sniff test, has been observed utilizing M-mode ultrasound and tissue Doppler imaging techniques in a patient diagnosed with LOPD. 57 Furthermore, 17 LOPD patients were included in a study to evaluate the correlation between diaphragm thickness and mobility using ultrasonography and respiratory function using spirometry.…”

“…11,[57][58][59] Classically, the drop of VC from upright to supine position is an indirect measure of diaphragm weakness, however, diaphragm weakness characterized by a paradoxical motion during a sniff test, has been observed utilizing M-mode ultrasound and tissue Doppler imaging techniques in a patient diagnosed with LOPD. 57 Furthermore, 17 LOPD patients were included in a study to evaluate the correlation between diaphragm thickness and mobility using ultrasonography and respiratory function using spirometry. 58 Diaphragm excursion, thickness at functional residual capacity and total lung capacity, and thickness fraction were decreased and significantly correlated with the routine PFTs and other respiratory tests.…”