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

Consensus treatment recommendations for late-onset Pompe disease.

Author information

  • 1Department of Neurology, Oregon Health & Science University, Portland, Oregon, USA.

Abstract

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.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
22173792
[PubMed - indexed for MEDLINE]
PMCID:
PMC3534745
Free PMC Article
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