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Pompe Disease

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What Is Pompe Disease?

If you or your child has Pompe disease, it's important to know that each case is different, and that doctors have treatments to help manage it.

Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs.

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).

Although it can happen to anyone, it's more common in African-American people and some Asian groups.

Cause

You get Pompe disease from your parents. To get it, you have to inherit two flawed genes, one from each parent.

You can have one gene and not have symptoms of the disease.

Symptoms

What symptoms you have, when they start, and how much trouble they are can be very different for different people.

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

If you're older when symptoms start -- as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to move slowly, and it doesn't usually involve your heart. You might notice:

  • Feeling weak in the legs, trunk, and arms
  • Shortness of breath, a hard time exercising, and lung infections
  • Trouble breathing while you sleep
  • A big curve in your spine
  • Enlarged liver
  • Enlarged tongue that makes it hard to chew and swallow
  • Stiff joints

Getting a Diagnosis

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?
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