Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease

The aim of this case-control study was to evaluate the ability of digital health technology (DHT) to detect and quantify mobility alterations in late-onset Pompe Disease. The study enrolled eight subjects with Pompe Disease, including three young mildly affected/asymptomatic subjects, who underwent an extensive DHT mobility assessment and were contrasted to 52 matched controls. DHT enabled the detection of subtle mobility alterations, indicating a lower speed in walking, and worse performances in postural transition and turning in patients compared to controls. Interestingly, in the three mildly affected/asymptomatic cases, step time variability and step length showed detectable alterations compared to controls, despite scores within the normal range on clinical scales and timed tests.