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

doi:10.1002/mus.21025

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

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149 Scopus citations

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 language	English
Pages (from-to)	1236-1245
Number of pages	10
Journal	Muscle and Nerve
Volume	38
Issue number	4
DOIs	https://doi.org/10.1002/mus.21025
State	Published - Oct 2008

Keywords

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

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10.1002/mus.21025

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title = "Clinical features of late-onset pompe disease: A prospective cohort study",

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.",

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AU - Wokke, John H.J.

AU - Escolar, Diana M.

AU - Pestronk, Alan

AU - Jaffe, Kenneth M.

AU - Carter, Gregory T.

AU - Van Den Berg, Leonard H.

AU - Florence, Julaine M.

AU - Mayhew, Jill

AU - Skrinar, Alison

AU - Corzo, Deyanira

AU - Laforet, Pascal

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

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Keywords

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