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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月14日

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

摘要

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.