A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)
- Published on 01/31/2025
- Reading time: 5 min.
Laney Dawn A. 1, Banks Kayla A. 2, Botha Eleanor G. 1, Keever Maria 3, Long Valynne 1, Foley Allison L. 1
1 https://ror.org/03czfpz43 Department of Human Genetics Emory University Atlanta GA USA
2 https://ror.org/01hhm9k47 Parent-Project Muscular Dystrophy Washington DC USA
3 https://ror.org/01p510883 WakeMed Physician Practices Raleigh NC USA
Abstract
Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression. The objective of this study is to determine if patients with a nonspecific diagnosis,...
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