Abstract
The aim of the study was to evaluate the ability of mobile health technology (MHT) to detect and quantify mobility alterations in late-onset Pompe Disease (PD). The study enrolled eight subjects with PD, including three young mildly affected/asymptomatic subjects, who underwent an extensive MHT mobility assessment and were contrasted to matched controls. MHT assessment enabled the detection of subtle mobility alterations, indicating a lower speed in walking, postural transition and turning lower performances in PD subjects compared to controls. Interestingly, in the three mildly affected/asymptomatic cases, clinical scales and timed tests scored within the normal ranges, whereas gait digital parameters showed detectable subtle alterations compared to controls.