What is Pompe disease?

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

Pompe disease occurs when your body is unable to produce 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 difficulty breathing. It mainly affects the liver, heart and muscles. You may hear Pompe disease go by other names, such as alpha-glucosidase (GAA) deficiency or type II glycogen storage disease.

While it can happen to anyone, it is more common in African Americans and some Asian groups.

Cause

You contracted Pompe disease from your parents. To get it, you must inherit two defective genes, one from each parent.

You can have one gene and still have no symptoms of the disease.

Symptoms

The symptoms you have, when they start, and how severe they are can be very different for different people.

A child aged a few months to 1 year has Pompe disease in early or infancy. It might look like this:

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 early as age 60—it's called late Pompe disease. This type tends to move slowly and does not usually engage your core. You may 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

Geting a diagnosis

Many symptoms are similar to other diseases. To help you understand what's going on, your doctor may ask you:

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?

Depending on the symptoms you have, you may need to get tested to rule out other conditions.

If your doctor thinks you may have Pompe disease, this is often confirmed by the following tests:

Check a muscle sample to see how much glycogen is there
Test a blood sample to see how well the "bad" protein works.
Investigate the genetic issue causing Pompe disease

Diagnosis of Pompe disease in a child can take about 3 months. For children and adults, this can take up to 7-9 years. Once doctors are sure, it's a good idea to also test family members for a genetic problem.

Questions for the doctor

What can I expect going forward?
What treatments are best for me now? Is there a clinical trial that would be good for me?
Do these treatments have side effects? What can I do about them?
How do we check on my progress? Are there new symptoms I should watch for?
How often should I see you?

Treatment

Early treatment, especially for infants, is essential to prevent injury.

The two drugs replace the missing protein and help the body process sugar properly. You take them by injection.

Myozyme, for babies and children
Lumizim

Taking care of yourself

Living with Pompe disease can be difficult. You and your family can turn to a counselor to help you come to terms with what is happening, especially if your abilities change. A support group can also be a safe place to share your feelings and find understanding.

Support groups can also be a good source of practical advice. For example, if you have trouble eating, you can try adding thickeners to your food to make it safer to swallow. You may need to use a feeding tube to make sure you are getting enough nutrients.

What to expect

Because Pompe disease can affect many parts of the body, it's best to contact a team of professionals who are familiar with the disease and who can help manage the symptoms. This may include:

Cardiologist (cardiologist)
Neurologist who treats the brain and spinal cord, nerves and muscles
Respiratory therapist who can help your lungs and breathing
Nutritionist to help you eat to stay healthy

As a rule, the later the disease appears, the slower it progresses. Babies can be treated, but because their symptoms are more intense and progress quickly, they usually don't live longer than a year. In late-onset Pompe disease, muscle weakness worsens over time and can eventually lead to severe breathing problems, possibly many years later.

Although there is no cure, treatment can relieve symptoms and help people live longer.