Clinical features of late-onset Pompe disease: a prospective cohort study.
The objective of this 12-month study was to describe the clinical features of late-onset Pompe disease and identify appropriate outcome measures for use in clinical trials. Assessments included quantitative muscle testing (QMT), functional activities (FAA), 6-min walk test (6MWT), and pulmonary function testing (PFT). Percent predicted values indicated quantifiable upper and lower extremity weakness, impaired walking ability, and respiratory muscle weakness. Significant declines in arm and leg strength and pulmonary function were observed during the study period. The outcome measures were demonstrated to be safe and reliable. Symptom duration was identified as the best predictor of the extent of skeletal and respiratory muscle weakness.
Wokke
John H J
JH
Universitair Medisch Centrum Utrecht HP G03.228, Heidelberglaan 100, 3584 CX Utrecht, Netherlands. J.Wokke@umcutrecht.nl
Escolar
Diana M
DM
Pestronk
Alan
A
Jaffe
Kenneth M
KM
Carter
Gregory T
GT
van den Berg
Leonard H
LH
Florence
Julaine M
JM
Mayhew
Jill
J
Skrinar
Alison
A
Corzo
Deyanira
D
Laforet
Pascal
P
D000328:Adult; D017668:Age of Onset; D000368:Aged; D015415:Biomarkers / Q000032:analysis; D002908:Chronic Disease / Q000628:therapy; D015331:Cohort Studies; D004185:Disability Evaluation; D018450:Disease Progression; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000503:physiopathology; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000503:physiopathology; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012132:Respiratory Muscles / Q000503:physiopathology; D012133:Respiratory Paralysis / Q000175:diagnosis* / Q000503:physiopathology*; D012720:Severity of Illness Index
D015415:Biomarkers