Skip to content
    Font Size
    A
    A
    A

    Pompe Disease

    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?
    1 | 2 | 3

    Hot Topics

    WebMD Video: Now Playing

    Click here to wach video: Dirty Truth About Hand Washing

    Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

    Click here to watch video: Dirty Truth About Hand Washing

    Popular Slideshows & Tools on WebMD

    disciplining a boy
    Types, symptoms, causes.
    fruit drinks
    Eat these to think better.
    embarrassed woman
    Do you feel guilty after eating?
    diabetes supply kit
    Pack and prepare.
    Balding man in mirror
    Treatments & solutions.
    birth control pills
    Which kind is right for you?
    Remember your finger
    Are you getting more forgetful?
    sticky notes on face
    10 tips to clear your brain fog.
    Close up of eye
    12 reasons you're distracted.
    Trainer demonstrating exercise for RA
    Exercises for your joints.
    apple slices with peanut butter
    What goes best with workouts?
    Pink badge on woman chest to support breat cancer
    Myths and facts.

    Pollen counts, treatment tips, and more.

    It's nothing to sneeze at.

    Loading ...

    Sending your email...

    This feature is temporarily unavailable. Please try again later.

    Thanks!

    Now check your email account on your mobile phone to download your new app.

    Women's Health Newsletter

    Find out what women really need.