Disease severity in children and adults with Pompe disease related to age and disease duration

Neurology. 2005 Jun 28;64(12):2139-41. doi: 10.1212/01.WNL.0000165979.46537.56.

Abstract

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activities of Daily Living*
  • Adolescent
  • Adult
  • Age Factors
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Disease Progression
  • Female
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / epidemiology*
  • Glycogen Storage Disease Type II / physiopathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Muscle, Skeletal / physiopathology
  • Respiration, Artificial / statistics & numerical data
  • Respiratory Insufficiency / epidemiology
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / therapy
  • Severity of Illness Index*
  • Surveys and Questionnaires*
  • Wheelchairs / statistics & numerical data