Consensus treatment recommendations for late-onset Pompe disease

Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15.


Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.

Methods: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.

Methods: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.

Conclusions: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Consensus*
  • Databases, Bibliographic / statistics & numerical data
  • Disease Progression
  • Glycogen Storage Disease Type II / complications*
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / history
  • Glycogen Storage Disease Type II / therapy*
  • Guidelines as Topic*
  • History, 20th Century
  • Humans