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What is Pompe disease?

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Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).

From: Pompe Disease WebMD Medical Reference

SOURCES:

NINDS: "NINDS Pompe Disease Information Page."

NIH: "Pompe disease."

Genetics Home Reference: "Pompe disease."

Emory University: "Pompe Disease: What You Need to Know."

Kishnani, P. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 2012.

AGSDUS: "Glycogen and Glycogen Storage Diseases" and "Type II Glycogen Storage Disease."

Duke Children's Hospital & Health Center: "Pompe Disease Clinical and Research Program."

Reviewed by Sabrina Felson on May 11, 2018

SOURCES:

NINDS: "NINDS Pompe Disease Information Page."

NIH: "Pompe disease."

Genetics Home Reference: "Pompe disease."

Emory University: "Pompe Disease: What You Need to Know."

Kishnani, P. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 2012.

AGSDUS: "Glycogen and Glycogen Storage Diseases" and "Type II Glycogen Storage Disease."

Duke Children's Hospital & Health Center: "Pompe Disease Clinical and Research Program."

Reviewed by Sabrina Felson on May 11, 2018

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Who is more likely to be affected by Pompe disease?

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