Disease severity in children and adults with Pompe disease related to age and disease duration.
Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.
Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
M L C
ML
Hagemans
L P F
LP
Winkel
W C J
WC
Hop
A J J
AJ
Reuser
P A
PA
Van Doorn
A T
AT
Van der Ploeg
D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D012121:Respiration, Artificial / Q000706:statistics & numerical data; D012131:Respiratory Insufficiency / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D014910:Wheelchairs / Q000706:statistics & numerical data