title: Course of disability and respiratory function in untreated late-onset Pompe disease.
abstract: Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional activities, respiratory function, handicap, and survival were recorded on a group level. This study illustrates the progressiveness of late-onset Pompe disease and indicates the need for close clinical follow-up of both children and adults with this disorder.
authors.affiliation: Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
authors.forename: M L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: W J C
authors.initials: WJ
authors.lastname: Hop
authors.forename: P A
authors.initials: PA
authors.lastname: Van Doorn
authors.forename: A J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: A T
authors.initials: AT
authors.lastname: Van der Ploeg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D006233:Persons with Disabilities; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012129:Respiratory Function Tests; D011795:Surveys and Questionnaires; D013997:Time Factors