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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 be very debilitating, and can affect many systems in the body. 

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 who are diagnosed 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 normally breaks down a type of glucose called .

When the enzyme is not made properly because of the genetic mutation, 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 family members have Pompe disease or similar symptoms. A blood test can look at the alpha-glucosidase enzyme in the blood- people with the 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 often screened for a number of diseases, and Pompe disease can be one of them, though this varies from state to state.

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

How Is Pompe Disease Treated?

In the past, many infants with Pompe disease died before their first birthday, but today those odds are improving. In 2006, a treatment approved by the U.S. Food and Drug Administration (FDA) called "enzyme replacement therapy" was 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 older kids. Physical therapy and occupational therapy can help. Researchers are now working on gene therapy treatment that they hope will enhance or even replace 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, and it's hard to predict in advance how it will affect your child.

But you don't have to go it alone. Try to connect with support groups that offer information, advice, and a listening ear to help you and your child learn to live with the disease.

Date reviewed: May 2018