ASMD In Families

ASMD runs in families

Know the risk of ASMD for you and your family

ASMD is caused by alterations (changes) in a specific gene called SMPD1. Genes are passed down from a parent to a child. In order for ASMD to be passed to a child, two copies of the altered SMPD1 gene are needed—one from each parent.

If a child inherits just one copy of the altered SMPD1 gene, he or she will not have ASMD. However, the child is a “carrier” for ASMD, which means no symptoms are experienced, but he or she may pass the one copy of the altered gene onto future children.

If one person in a family is diagnosed with ASMD, other family members may also have the disease. Therefore, understanding how ASMD is inherited is important. Many people living with ASMD have experienced long delays in getting an accurate diagnosis. Testing family members can help get to a diagnosis quicker so that symptoms can be appropriately managed earlier.

Explore the inheritance patterns of ASMD

Select Noncarrier, Carrier, or ASMD for each parent to see how a parent's disease status affects a child's chances of inheriting ASMD.

Noncarrier
Carrier
ASMD

Family screening may lead to an earlier diagnosis

Even if a family member is not experiencing symptoms, he or she may still be at risk of having ASMD or passing the altered gene to his or her children.

ASMD symptoms can worsen over time, but testing is simple, and an early diagnosis can allow for appropriate symptom management.

Recognize the symptoms of ASMD
Recognize the Symptoms of ASMD
Connect with the ASMD Community
Connect with the ASMD Community