Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy.

Journal Article

Obstructive sleep apnea is a common complication of Pompe disease. Treatment for obstructive sleep apnea in patients with Pompe disease is similar to treatment in the general population, typically involving positive airway pressure therapy. We present a case in which a patient with late-onset Pompe disease was able to discontinue positive airway pressure therapy after treatment with enzyme replacement therapy for his Pompe disease. It is likely that an improvement in muscle tone from the enzyme replacement therapy was sufficient to eliminate his obstructive sleep apnea. Pharmacological therapies for obstructive sleep apnea are lacking but could apply to certain populations, such as Pompe disease.

Full Text

Duke Authors

Cited Authors

  • Bhui, R; Spector, AR

Published Date

  • April 2020

Published In

Volume / Issue

  • 30 / 4

Start / End Page

  • 329 - 330

PubMed ID

  • 32173248

Electronic International Standard Serial Number (EISSN)

  • 1873-2364

Digital Object Identifier (DOI)

  • 10.1016/j.nmd.2020.02.004


  • eng

Conference Location

  • England