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
