ASMD Inheritance Patterns in Families

ASMD is inherited in an autosomal recessive pattern¹

This condition may affect other family members

An individual is affected by ASMD when 2 loss-of-function alleles for the SMPD1 gene are inherited. More than a hundred pathogenic variants in the SMPD1 gene have been identified to date in patients with ASMD. Some variants result in more severe disease manifestations.^1,2

If both parents are carriers of a pathogenic variant, the disease can be passed down to their children in the following way:

If both parents are carriers, every child has a 1-in-4 chance of being born with ASMD

Family screening is imperative for identifying family members who may be at risk. Testing can expedite the path to diagnosis and symptom management.

References: 1. McGovern MM et al. Orphanet J Rare Dis. 2017;12(1):41. 2. McGovern MM et al. Genet Med. 2017;19(9):967-974.