I Have Pompe Disease; Will I Pass It to My Children?

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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pompe disease genetics

Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms.

If you or your partner has Pompe disease, you may wonder whether the disease will also affect your future children.

How is Pompe disease inherited?

Pompe disease is inherited in a recessive pattern, meaning a person needs to inherit two copies of a disease-causing mutation — one from each parent — to develop the disease.

If you have Pompe disease, you have two copies of a disease-causing mutation. When you have children, they will inherit one copy of the mutation from you.

What does being a carrier mean?

As long as your partner does not have a disease-causing mutation, your children will only have one copy of the mutation (the one they inherited from you). In this case, they will be carriers of Pompe disease. Carriers of a genetic disease show no symptoms of the disease; however, they could pass the disease-causing mutation onto their own children.

What if my partner is a carrier?

If your partner is a carrier (that is, they have a single copy of the disease-causing mutation), your children will have a 1 in 2 chance of inheriting two copies of the mutation (one from you and one from your partner) and developing Pompe disease. But they will also have a 1 in 2 chance of inheriting the healthy gene copy from your partner and being a carrier without showing symptoms.

Genetic counseling

If you have Pompe disease or have a family history of the disease, you should discuss with a genetic counselor if you plan to have children. They can tell you what your genetic test results mean and calculate your children’s risk of inheriting the disease. They may also recommend other members of your family be tested for Pompe disease.


Last updated: March 31, 2020


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