Characterization of gait in late onset Pompe disease

详细信息    查看全文

• 作者：Paul T. McIntosh ; ^{paul_mcintosh@outlook.com" class="auth_mail" title="E-mail the corresponding author} ; ^{paul_mcintosh@med.unc.edu" class="auth_mail" title="E-mail the corresponding author} ; Laura E. Case ; Justin M. Chan ; Stephanie L. Austin ; Priya Kishnani
• 关键词：Pompe disease ; Neuromuscular disease ; GAITRite ; Gait analysis ; Temporospatial parameters
• 刊名：Molecular Genetics and Metabolism
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：116
• 期：3
• 页码：152-156
• 全文大小：174 K

文摘

The skeletal muscle manifestations of late-onset Pompe disease (LOPD) cause significant gait impairment. However, the specific temporal and spatial characteristics of abnormal gait in LOPD have not been objectively analyzed or described in the literature. This pilot study evaluated the gait of 22 individuals with LOPD using the GAITRite® temporospatial gait analysis system. The gait parameters were compared to normal reference values, and correlations were made with standard measures of disease progression. The LOPD population demonstrated significant abnormalities in temporospatial parameters of gait including a trend towards decreased velocity and cadence, a prolonged stance phase, prolonged time in double limb support, shorter step and stride length, and a wider base of support. Precise descriptions and analyses of gait abnormalities have much potential in increasing our understanding of LOPD, especially in regards to how its natural history may be modified by the use of enzyme replacement therapy (ERT) and other interventions. Gait analysis may provide a sensitive early marker of the onset of clinical symptoms and signs, offer an additional objective measure of disease progression and the impact of intervention, and serve as a potentially important clinical endpoint. The additional data from comprehensive gait analysis may personalize and optimize physical therapy management, and the clarification of specific gait patterns in neuromuscular diseases could be of clinical benefit in the ranking of a differential diagnosis.