Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, Hagemans ML
Orphanet journal of rare diseases, 2011 Jun 01
Abstract
Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory function and may lead to wheelchair and ventilator dependency. It is as yet unknown to what extent the disease reduces the life span of these patients. Our objective was to determine the survival of adults with Pompe disease not receiving ERT and to identify prognostic factors associated with survival.