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A Study to Identify Individuals At Risk To Be Affected By Pompe Disease Who Had PrevioUsly Been Given a Non-Specific OR Tentative DiagnosiS For Their MUsclEWeakness (Pompe PURSUE)

2024-06-13

Abstract excerpt

<title>Abstract</title> <p>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. T...

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Literature Corpus work: c25a3c4f-1bcd-5526-9744-8330b5fd57ee
DOI: 10.21203/rs.3.rs-4325538/v1

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