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Longitudinal polysomnographic findings in infantile Pompe disease
Author(s) -
Kansagra Sujay,
Austin Stephanie,
DeArmey Stephanie,
Kazi Zoheb,
Kravitz Richard M,
Kishnani Priya S
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37007
Subject(s) - enzyme replacement therapy , medicine , polysomnography , pediatrics , glycogen storage disease type ii , cohort , disease , apnea , hypoventilation , obstructive sleep apnea , sleep apnea , central sleep apnea , myopathy , incidence (geometry) , respiratory system , physics , optics
Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α‐glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep‐disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile‐onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow‐up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort. © 2015 Wiley Periodicals, Inc.