Course of disability and respiratory function in untreated late-onset Pompe disease.
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.
Hagemans
M L C
ML
Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Hop
W J C
WJ
Van Doorn
P A
PA
Reuser
A J J
AJ
Van der Ploeg
A T
AT
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