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What are symptoms of Pompe disease for babies?

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A baby between a few months old and age 1 has early-onset, or infantile, Pompe disease. This could look like:

  • Trouble eating and not gaining weight
  • Poor head and neck control
  • Rolling over and sitting up later than expected
  • Breathing problems and lung infections
  • Enlarged and thickening heart or heart defects
  • Enlarged liver
  • Enlarged tongue

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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What are symptoms of Pompe disease for adults?

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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for general informational purposes only and does not address individual circumstances. It is not a substitute for professional medical advice, diagnosis or treatment and should not be relied on to make decisions about your health. Never ignore professional medical advice in seeking treatment because of something you have read on the WebMD Site. If you think you may have a medical emergency, immediately call your doctor or dial 911.

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