Consensus treatment recommendations for late-onset pompe disease

Edward J. Cupler, Kenneth I. Berger, Robert T. Leshner, Gil I. Wolfe, Jay J. Han, Richard J. Barohn, John T. Kissel

Research output: Contribution to journalArticlepeer-review

120 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)319-333
Number of pages15
JournalMuscle and Nerve
Issue number3
StatePublished - Mar 2012


  • Acid alpha-glucosidase
  • Acid maltase deficiency
  • Lysosomal storage disorder
  • Neuromuscular disease
  • Pompe disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology


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