Abstract
Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations. It is caused by an inherited deficiency of acid α-glucosidase (GAA), which leads to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal, and smooth muscle. The gradual pathologic storage of GAA in muscle cells causes irreversible muscle damage, with different signs and symptoms, including respiratory insufficiency and muscle weakness. In Pompe disease, defining severity grades is essential for prognosis and for monitoring responses to enzyme replacement therapy (available since 2006). The purpose of this analysis was to describe the MR-imaging findings of patients with Pompe disease being treated in our institution between 2010 and 2012 (n=10).
Highlights
Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations. It is caused by an inherited deficiency of acid a-glucosidase (GAA), which leads to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal, and smooth muscle
In Pompe disease, defining severity grades is essential for prognosis and for monitoring responses to enzyme replacement therapy
The purpose of this analysis was to describe the MR-imaging findings of patients with Pompe disease being treated in our institution between 2010 and 2012 (n=10)
Summary
Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations. C Pérez Fernández*, L Bosanska, U Plöckinger, A Pöllinger From Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease Berlin, Germany. Introduction Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations.
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