What Is Pompe Disease?

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

Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II.

What Are the Signs & Symptoms of Pompe Disease?

Children with Pompe (pom-PAY) disease may have:

• heart problems
• muscle weakness that can make it hard to walk
• breathing problems

The younger a child is at diagnosis, the more severe these symptoms can be. For example, babies with Pompe disease have 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 (change) in a gene that helps make an enzyme called acid alpha-glucosidase. This enzyme breaks down a type of glucose called glycogen .

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.

Pompe disease can be:

• infantile-onset: symptoms begin in the first few months after birth
• late-onset or delayed-onset: symptoms appear later in childhood or in adulthood

Pompe disease 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.

Diagnosis before birth might be done if another child in the family has the disease and the gene change is 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. Enzyme replacement therapy can extend the lives of babies with infantile-onset Pompe disease. It also helps people with late-onset disease.

Getting care from a team of medical specialists helps many children with Pompe disease live well into adulthood. This is especially true when the disease is diagnosed in an older child. The care team includes:

• a cardiologist
• a neurologist
• a dietitian
• a respiratory therapist

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.

What Else Should I Know?

Learning that a child has Pompe disease can be hard for any family. It's important to remember that this complex condition affects every child differently.

You don't have to go it alone. The care team is there for your child and your whole family. You also can connect with support groups that offer information, advice, and a listening ear, such as:

• The Acid Maltase Deficiency Association
• Association for Glycogen Storage Disease
• NINDS (Information and Clinical Trials)