Clinical features of late-onset pompe disease: A prospective cohort study

John H J Wokke, Diana M. Escolar, Alan Pestronk, Kenneth M. Jaffe, Gregory T. Carter, Leonard H. Van Den Berg, Julaine M. Florence, Jill Mayhew, Alison Skrinar, Deyanira Corzo, Pascal Laforet

Research output: Contribution to journalArticle

Abstract

The objective of this 12-month study was to describe the clinical features of late-onset Pompe disease and identify appropriate outcome measures for use in clinical trials. Assessments included quantitative muscle testing (QMT), functional activities (FAA), 6-min walk test (6MWT), and pulmonary function testing (PFT). Percent predicted values indicated quantifiable upper and lower extremity weakness, impaired walking ability, and respiratory muscle weakness. Significant declines in arm and leg strength and pulmonary function were observed during the study period. The outcome measures were demonstrated to be safe and reliable. Symptom duration was identified as the best predictor of the extent of skeletal and respiratory muscle weakness.

Original languageEnglish (US)
Pages (from-to)1236-1245
Number of pages10
JournalMuscle and Nerve
Volume38
Issue number4
DOIs
StatePublished - Oct 2008
Externally publishedYes

Fingerprint

Glycogen Storage Disease Type II
Respiratory Muscles
Muscle Weakness
Cohort Studies
Outcome Assessment (Health Care)
Prospective Studies
Lung
Walking
Lower Extremity
Leg
Skeletal Muscle
Arm
Clinical Trials
Muscles
Late Onset Disorders
Walk Test

Keywords

  • Acid maltase deficiency
  • Glycogen storage disease type ii
  • Outcome measures
  • Pompe disease
  • Prospective cohort study

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this

Wokke, J. H. J., Escolar, D. M., Pestronk, A., Jaffe, K. M., Carter, G. T., Van Den Berg, L. H., ... Laforet, P. (2008). Clinical features of late-onset pompe disease: A prospective cohort study. Muscle and Nerve, 38(4), 1236-1245. https://doi.org/10.1002/mus.21025

Clinical features of late-onset pompe disease : A prospective cohort study. / Wokke, John H J; Escolar, Diana M.; Pestronk, Alan; Jaffe, Kenneth M.; Carter, Gregory T.; Van Den Berg, Leonard H.; Florence, Julaine M.; Mayhew, Jill; Skrinar, Alison; Corzo, Deyanira; Laforet, Pascal.

In: Muscle and Nerve, Vol. 38, No. 4, 10.2008, p. 1236-1245.

Research output: Contribution to journalArticle

Wokke, JHJ, Escolar, DM, Pestronk, A, Jaffe, KM, Carter, GT, Van Den Berg, LH, Florence, JM, Mayhew, J, Skrinar, A, Corzo, D & Laforet, P 2008, 'Clinical features of late-onset pompe disease: A prospective cohort study', Muscle and Nerve, vol. 38, no. 4, pp. 1236-1245. https://doi.org/10.1002/mus.21025
Wokke JHJ, Escolar DM, Pestronk A, Jaffe KM, Carter GT, Van Den Berg LH et al. Clinical features of late-onset pompe disease: A prospective cohort study. Muscle and Nerve. 2008 Oct;38(4):1236-1245. https://doi.org/10.1002/mus.21025
Wokke, John H J ; Escolar, Diana M. ; Pestronk, Alan ; Jaffe, Kenneth M. ; Carter, Gregory T. ; Van Den Berg, Leonard H. ; Florence, Julaine M. ; Mayhew, Jill ; Skrinar, Alison ; Corzo, Deyanira ; Laforet, Pascal. / Clinical features of late-onset pompe disease : A prospective cohort study. In: Muscle and Nerve. 2008 ; Vol. 38, No. 4. pp. 1236-1245.
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