title: Consensus treatment recommendations for late-onset Pompe disease.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Neurology, Oregon Health & Science University, Portland, Oregon, USA.
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Cupler
authors.forename: Kenneth I
authors.initials: KI
authors.lastname: Berger
authors.forename: Robert T
authors.initials: RT
authors.lastname: Leshner
authors.forename: Gil I
authors.initials: GI
authors.lastname: Wolfe
authors.forename: Jay J
authors.initials: JJ
authors.lastname: Han
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
mesh_terms: D016206:Databases, Bibliographic / Q000706:statistics & numerical data; D018450:Disease Progression; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis* / Q000266:history / Q000628:therapy*; D017408:Guidelines as Topic; D049673:History, 20th Century; D006801:Humans