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Pompe Disease

What Is Pompe Disease?

Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time. It can greatly affect many of the body's systems.

What Are the Signs & Symptoms of Pompe Disease?

Children with Pompe (pom-PAY) disease may have heart problems, muscle weakness (which can make walking very hard), and breathing problems.

The younger a child is at diagnosis, the more severe these symptoms can be. For example, infants with Pompe disease develop life-threatening problems from an enlarged heart, and can have trouble breathing, eating, and gaining weight.

What Causes Pompe Disease?

Pompe disease happens because of a mutation (a change) in a gene that helps make an enzyme called alpha-glucosidase. This enzyme breaks down a type of glucose called .

When the enzyme is not made properly, glycogen builds up in the body's cells. This stops the cells — especially those in the body's muscles, including the heart — from working as they should.

Who Gets Pompe Disease?

Symptoms of the disease can appear in infancy, childhood, or adulthood. It affects males and females equally.

How Is Pompe Disease Diagnosed?

Doctors will do an exam, ask about symptoms, and find out whether any family members have Pompe disease or similar symptoms.

A blood test can look at the alpha-glucosidase enzyme in the blood. People with Pompe disease will have less than normal or no enzyme activity at all. Another type of blood test can look for the mutation in the gene itself.

Newborn babies are screened for many diseases, and in some U.S. states, Pompe disease is one of them.

Pompe disease also can be diagnosed before a baby is born if another child in the family has the disease and the genetic mutation has been found.

How Is Pompe Disease Treated?

In the past, many infants with Pompe disease lived only into early childhood. But today those odds are improving. A treatment called "enzyme replacement therapy" has been found to extend the lives of babies with infant-onset Pompe disease, and to also help people with later onset of disease.

Getting care from a team of medical specialists — including a , , dietitian, and respiratory therapist — helps many children with Pompe disease live well into adulthood. This is especially true when the disease is diagnosed in an older child.

Physical therapy and occupational therapy also can help. And researchers are working on gene therapy treatment that they hope will enhance or even replace the current treatment.

Looking Ahead

A Pompe disease diagnosis can be frightening and upsetting. It's important to remember that this complex condition affects every child differently.

But you don't have to go it alone. Connect with support groups that offer information, advice, and a listening ear to help you and your child.

Date reviewed: June 2018

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