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Characterization of gait in late onset Pompe disease.

Publication ,  Journal Article
McIntosh, PT; Case, LE; Chan, JM; Austin, SL; Kishnani, P
Published in: Mol Genet Metab
November 2015

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.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2015

Volume

116

Issue

3

Start / End Page

152 / 156

Location

United States

Related Subject Headings

  • Young Adult
  • Pilot Projects
  • Middle Aged
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Gait Disorders, Neurologic
  • Gait
  • Enzyme Replacement Therapy
 

Citation

APA
Chicago
ICMJE
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McIntosh, P. T., Case, L. E., Chan, J. M., Austin, S. L., & Kishnani, P. (2015). Characterization of gait in late onset Pompe disease. Mol Genet Metab, 116(3), 152–156. https://doi.org/10.1016/j.ymgme.2015.09.001
McIntosh, Paul T., Laura E. Case, Justin M. Chan, Stephanie L. Austin, and Priya Kishnani. “Characterization of gait in late onset Pompe disease.Mol Genet Metab 116, no. 3 (November 2015): 152–56. https://doi.org/10.1016/j.ymgme.2015.09.001.
McIntosh PT, Case LE, Chan JM, Austin SL, Kishnani P. Characterization of gait in late onset Pompe disease. Mol Genet Metab. 2015 Nov;116(3):152–6.
McIntosh, Paul T., et al. “Characterization of gait in late onset Pompe disease.Mol Genet Metab, vol. 116, no. 3, Nov. 2015, pp. 152–56. Pubmed, doi:10.1016/j.ymgme.2015.09.001.
McIntosh PT, Case LE, Chan JM, Austin SL, Kishnani P. Characterization of gait in late onset Pompe disease. Mol Genet Metab. 2015 Nov;116(3):152–156.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2015

Volume

116

Issue

3

Start / End Page

152 / 156

Location

United States

Related Subject Headings

  • Young Adult
  • Pilot Projects
  • Middle Aged
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Gait Disorders, Neurologic
  • Gait
  • Enzyme Replacement Therapy