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)
Dawn Laney,
Kayla A. Banks,
Eleanor G. Botha
et al.
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, such as muscle weakness, may have LOPD us… Show more
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