Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

Lara CirnigliaroFabio PettinatoMaria Stella ValleAntonino CasabonaAgata FiumaraMichele VecchioValerio AmicoRenata RizzoJaak JaekenRita BaroneMatteo Cioni

Published in: Orphanet journal of rare diseases (2024)

The study elucidates different components of gait disturbance in PMM2-CDG patients and shows advantages of using wearable sensor-based IGA in this frame. IGA parameters may potentially serve as quantitative measures for follow-up or outcome quantification in PMM2-CDG.

Keyphrases

ejection fraction
newly diagnosed
high resolution
prognostic factors
cerebral palsy
blood pressure
patient reported outcomes