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

If both parents are carriers of ASMD, every child has a 1 in 4 chance of being born with the disease
Signs and symptoms of ASMD
Know the
Signs of ASMD
Request More Information about ASMD
looking for more
information on asmd?
  1. McGovern MM, Avetisyan R, Sanson BJ, Lidove O. Orphanet J Rare Dis. 2017;12(1):41.
  2. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Genet Med. 2017;19(9):967-974.