Late onset Pompe disease (LOPD) is characterized by significant motor disabilities, which affect in particular ambulation. Only one study reports on spatial-temporal parameters of gait assessed in a clinical heterogeneous group of unrelated patients. In this study spatiotemporal and kinematic gait patterns are described in a genetically homogenous group of LOPD patients using 3d movement analysis. 7 LOPD siblings, harbouring the same GAA mutations compound, were assessed with clinical scales and with 3d movement analysis to measure spatial-temporal and kinematic parameters during gait cycle and “sit to stand test”. Relevant abnormalities were observed either in spatial-temporal and kinematic parameters. The former consisted in a trend towards a decreased velocity and cadence, a prolonged time in double limb support, shorter step and stride length, and a widening of base of support; the latter in an increased anterior pelvic-tilt and posterior trunk-tilt during the whole gait cycle, a decreased pelvic obliquity, active hip extension and ankle dorsiflexion. This study shows, in homogenous group of LOPD patients, either spatial-temporal and kinematic deviations that may improve understanding of the musculoskeletal alterations, the evolution of disease and the answer to the enzyme replacement therapy.

Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship

De Blasiis, P;MELONE, Mariarosa Anna Beatrice;DI IORIO, Giuseppe;SAMPAOLO, Simone
2017

Abstract

Late onset Pompe disease (LOPD) is characterized by significant motor disabilities, which affect in particular ambulation. Only one study reports on spatial-temporal parameters of gait assessed in a clinical heterogeneous group of unrelated patients. In this study spatiotemporal and kinematic gait patterns are described in a genetically homogenous group of LOPD patients using 3d movement analysis. 7 LOPD siblings, harbouring the same GAA mutations compound, were assessed with clinical scales and with 3d movement analysis to measure spatial-temporal and kinematic parameters during gait cycle and “sit to stand test”. Relevant abnormalities were observed either in spatial-temporal and kinematic parameters. The former consisted in a trend towards a decreased velocity and cadence, a prolonged time in double limb support, shorter step and stride length, and a widening of base of support; the latter in an increased anterior pelvic-tilt and posterior trunk-tilt during the whole gait cycle, a decreased pelvic obliquity, active hip extension and ankle dorsiflexion. This study shows, in homogenous group of LOPD patients, either spatial-temporal and kinematic deviations that may improve understanding of the musculoskeletal alterations, the evolution of disease and the answer to the enzyme replacement therapy.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11591/380480
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