title: Characterization of gait in late onset Pompe disease.
abstract: 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.
authors.affiliation: Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710. Electronic address: paul_mcintosh@outlook.com.
authors.forename: Paul T
authors.initials: PT
authors.lastname: McIntosh
authors.affiliation: Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710.
authors.forename: Justin M
authors.initials: JM
authors.lastname: Chan
authors.affiliation: Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Austin
authors.affiliation: Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710.
authors.forename: Priya
authors.initials: P
authors.lastname: Kishnani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D005684:Gait; D020233:Gait Disorders, Neurologic / Q000503:physiopathology*; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D010865:Pilot Projects; D055815:Young Adult
keywords: GAITRite; Gait analysis; Neuromuscular disease; Pompe disease; Temporospatial parameters