Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease

Eur Respir J. 2005 Dec;26(6):1024-31. doi: 10.1183/09031936.05.00020005.

Abstract

The objective of the present study was to prospectively evaluate relationships linking age, respiratory function and locomotor function in 29 outpatients with late-onset Pompe's disease and to retrospectively determine clinical outcomes. Using univariate regression analysis, vital capacity (VC) was weakly, but significantly, correlated to shoulder motility, Walton score and lower-limb Modified Medical Research Council score. Six patients were able to walk without a walking aid and with only the help of a handrail on the stairs (Walton score=3), although VC was <50%. No parameters were significantly correlated with age. As assessed retrospectively, VC and locomotion deteriorated over time in most patients. In contrast, among the 16 patients started on invasive or noninvasive ventilation with VC monitoring, eight had a VC increase at the first measurement time-point. The absence of correlation with age and the presence, in some patients, of severe respiratory insufficiency without severe limb girdle muscle weakness indicate that respiratory function should be monitored independently from the degree of peripheral muscle weakness. Mechanical ventilation and tracheostomy may improve vital capacity and should, therefore, be taken into account when evaluating treatments for the adult form of Pompe's disease.

Publication types

  • Comparative Study

MeSH terms

  • Age Distribution
  • Aged
  • Cohort Studies
  • Comorbidity
  • Disease Progression
  • Extremities
  • Female
  • Follow-Up Studies
  • Glycogen Storage Disease Type II / complications*
  • Glycogen Storage Disease Type II / diagnosis
  • Humans
  • Incidence
  • Linear Models
  • Male
  • Middle Aged
  • Muscle Weakness / epidemiology*
  • Muscle Weakness / etiology
  • Muscle Weakness / physiopathology
  • Neuromuscular Diseases / epidemiology
  • Neuromuscular Diseases / etiology
  • Neuromuscular Diseases / physiopathology
  • Polysomnography
  • Probability
  • Prospective Studies
  • Respiratory Function Tests
  • Respiratory Insufficiency / epidemiology*
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / physiopathology
  • Retrospective Studies
  • Risk Assessment
  • Severity of Illness Index
  • Sex Distribution