Understanding Pompe Disease

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Pompe disease is a rare neuromuscular disorder that occurs in babies, children, and adults who inherit a defective gene from their parents. It is one of more than 40 genetic diseases that are known as lysosomal storage disorders. Pompe is a progressive disease, which means it gets worse over time. This makes it similar to other neuromuscular disorders, such as the muscular dystrophies. They also cause progressive muscle weakness and loss of muscle tissue (muscle wasting). Because the muscle weakness occurs as a result of changes that take place inside the body’s cells, Pompe is also a metabolic muscle disease. It is also considered a glycogen storage disease. This is because the changes are a result of a buildup of glycogen (GLY-co-jen) in muscle cells.

Source: Pompe Community Website