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.

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Publication Details

Journal
Scientific Reports
Published
2025-08-14
DOI
https://doi.org/10.1038/s41598-025-14993-y
Citations
2
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
2.33

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article

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

Andrea Rizzardi, Andrea Pilotto, Loris Poli, Massimiliano Filosto et al.
2 citations
Scientific Reports
Lysosomal Storage Disorders Research
2.33
article

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

Andrea Rizzardi, Andrea Pilotto, Loris Poli, Massimiliano Filosto, Cinzia Zatti, Barbara Risi, Filomena Caria, Johanna Geritz, Stefano Cotti Piccinelli, Walter Maetzler, Beatrice Labella, Simona Damioli, Clint Hansen, Robbin Romijnders, Alessandro Padovani, Chiara Trasciatti, Lucia Ferullo, Emanuele Olivieri
article en
2 citations

Abstract

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.

Scientific ReportsVol. 15(1)
Christian-Albrechts-Universität zu Kiel (DE), Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT), Biosensor (Italy) (IT), University of Brescia (IT)
Associazione Italiana Ricerca Alzheimer
Openalex Percentile: Top 11%
Lysosomal Storage Disorders Research
2.33
DOIOpen Access PDFOpenAlex
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