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What will the doctor ask you to figure out if you have Pompe disease symptoms?

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Many symptoms are similar to other medical conditions. To help figure out what's going on, your doctor may ask:

  • Do you feel weak, fall often, or have trouble walking, running, climbing stairs, or standing up?
  • Do you have a hard time breathing, especially at night or when you lie down?
  • Do you get headaches in the morning?
  • Are you often tired during the day?
  • When you were a child, what kinds of health problems did you have?
  • Does or did anyone else in your family have troubles like these, too?

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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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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