Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: Consensus recommendations from an expert group

The MENA Pompe Working Group

Research output: Contribution to journalLetterpeer-review

19 Citations (Scopus)

Abstract

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Original languageEnglish
Article number205
JournalBMC Neurology
Volume15
Issue number1
DOIs
Publication statusPublished - Oct 15 2015

ASJC Scopus subject areas

  • Clinical Neurology

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