Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?

Abstract

Late-onset Pompe disease (LOPD) is a rare disease, defined as a progressive accumulation of lysosomal glycogen resulting in muscle weakness and respiratory problems. Anecdotally, individuals often have difficulties walking, yet, there is no three-dimensional data supporting these claims. We aimed to assess walking patterns in individuals with LOPD and compare with healthy individuals. Kinematic, kinetic and spatiotemporal data were compared during walking at a self-selected speed between individuals with LOPD (n = 12) and healthy controls (n = 12). Gait profile scores and movement analysis profiles were also determined to indicate gait quality. In comparison with healthy individuals, the LOPD group demonstrated greater thoracic sway (96%), hip adduction angles (56%) and pelvic range of motion (77%) and reduced hip extensor moments (36%). Greater group variance for the LOPD group were also observed. Individuals with LOPD had a slower (15%) walking speed and reduced cadence (7%). Gait profile scores were 37% greater in the LOPD group compared to the healthy group. Proximal muscular weakness associated with LOPD disease is likely to have resulted in a myopathic gait pattern, slower selected walking speeds and deviations in gait patterns. Although individuals with LOPD presented with some common characteristics, greater variability in gait patterns is likely to be a result of wide variability in phenotype spectrum observed with LOPD. This is the first study to examine walking in individuals with LOPD using instrumented gait analysis and provides an understanding of LOPD on walking function which can help orientate physiotherapy treatment for individuals with LOPD.

Keywords: Gait abnormalities; Gait profile score; Late-onset Pompe disease; Three-dimensional gait.