SEARCH

SEARCH BY CITATION

Keywords:

  • Pompe disease;
  • glycogen storage disease type II;
  • acid maltase deficiency;
  • outcome measures;
  • 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. Muscle Nerve 38: 1236–1245, 2008