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5 Facts you should know about
Pompe disease
Infantile form
1
The infantile form presents within the first few months of life with hypotonia (poor muscle tone), muscle weakness, an enlarged liver, and heart defects
2
Cardiomegaly and hypertrophic cardiomyopathy are common in the infantile form and can lead to heart failure
3
Newborn screening for Pompe disease is possible and is being increasingly included in national screening programs
4
Enzyme replacement therapy (ERT) with recombinant human GAA is available and can alter the course of the disease, especially if started early
5
Without treatment, the infantile form typically leads to death within the first year of life
Rare Neurology News
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