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 parents to their children. In order for ASMD to be passed from parents to their children, two copies of the altered SMPD1 gene are needed—one copy from each parent.
If a child inherits just one copy of the altered, they will not have ASMD, but will be a "carrier." A carrier for ASMD does not experience any symptoms, but can pass the altered gene and disease onto their 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 each child's chances of inheriting ASMD.
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Unaffected (No ASMD, noncarrier), Carrier (no ASMD), Affected (ASMD).
