Erschienen in:
01.09.2013 | Original Article
Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype
verfasst von:
L. E. M. van den Berg, M. R. Drost, G. Schaart, J. de Laat, P. A. van Doorn, A. T. van der Ploeg, A. J. J. Reuser
Erschienen in:
Journal of Inherited Metabolic Disease
|
Ausgabe 5/2013
Einloggen, um Zugang zu erhalten
Abstract
Pompe disease is a lysosomal storage disorder caused by acid α-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients’ perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T>G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.