Pompe disease

Diagnosis and Testing

Should family members get tested for Pompe disease?

While Pompe disease is relatively rare, it can run in families and be passed from parents to children. The way that Pompe disease is passed down is called autosomal recessive inheritance. This means that in order to develop symptoms of Pompe, a person must have inherited two non-working copies of the GAA gene, which is the gene associated with Pompe disease. If a person has one working copy and one non-working copy, they are a carrier for Pompe disease but do not have any symptoms themselves. We assume that both parents of an affected person are carriers, so each of their children has a 1 in 4 or 25% chance of having Pompe disease as well. Testing the brothers and sisters of someone who has Pompe disease is important because it can find out who is a carrier and who is also affected by Pompe disease (but may not have visible symptoms yet). The aunts and uncles of people with Pompe disease may also be carriers. If other people in the family want to know their chances to have a baby with Pompe disease, they can be tested for the same gene changes as the person diagnosed with Pompe disease.

Pompe Disease - Patients & Families: Getting Diagnosed https://www.pompe.com/en/patients/getting-diagnosed/family-testing.aspx

Pompe disease on Gene Reviews

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