Table of Contents
Journal of Neurodegenerative Diseases
Volume 2017 (2017), Article ID 9427269, 7 pages
https://doi.org/10.1155/2017/9427269
Clinical Study

Clinical Analysis of Algerian Patients with Pompe Disease

1Service de Neurologie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
2Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
3Service de Pédiatrie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
4Laboratoire des Maladies Héréditaires du Métabolisme, Biochimie et Biologie Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France
5Laboratoire de Biochimie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
6Service de Chirurgie Orthopédique, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
7Service Médecine Physique et Réadaptation Fonctionnelle, Faculté de Médecine, Université Constantine 3, Constantine, Algeria
8Service de Réanimation Médicale, Faculté de Médecine, Université Constantine 3, Constantine, Algeria

Correspondence should be addressed to Y. Sifi

Received 30 April 2016; Accepted 9 October 2016; Published 6 February 2017

Academic Editor: Brian Spencer

Copyright © 2017 Y. Sifi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pompe’s disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe’s disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe’s disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe’s disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe’s disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (). Our results are similar to other ethnic groups.