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NEUROLOGY 2005;64:2139-2141
© 2005 American Academy of Neurology
Brief Communications

Disease severity in children and adults with Pompe disease related to age and disease duration

M.L.C. Hagemans, MSc, L. P.F. Winkel, MD, PhD, W. C.J. Hop, PhD, A. J.J. Reuser, PhD, P. A. Van Doorn, MD, PhD and A. T. Van der Ploeg, MD, PhD

From the Department of Pediatrics (Drs. Winkel and Van der Ploeg, M.L.C. Hagemans), Division of Metabolic Diseases and Genetics, Erasmus MC–Sophia, and Departments of Biostatistics and Epidemiology (Dr. Hop), Clinical Genetics (Dr. Reuser, M.L.C. Hagemans), and Neurology (Dr. Van Doorn), Erasmus MC, Rotterdam, the Netherlands.

Address correspondence and reprint requests to Dr Van der Ploeg, Erasmus MC–Sophia, Sp 2435, Dr. Molewaterplein 60, 3015 GJ Rotterdam, the Netherlands; e-mail: a.vanderploeg{at}erasmusmc.nl

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.

This study was a joint initiative of the International Pompe Association (IPA) and Erasmus MC and was financed in part by IPA.

As of August 2004, Drs. Van der Ploeg and Reuser have provided consulting services for Genzyme under an agreement between Genzyme and Erasmus MC.

Received December 21, 2004. Accepted in final form March 23, 2005.




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