Carriers and Potential Carriers

This section provides information relevant to female patients who are known carriers for Duchenne or Becker muscular dystrophy, and female patients who may be carriers based on their family or medical histories. It includes definitions and content on the potential health effects of carrying a mutation, identifying carriers, ordering and interpreting genetic carrier testing, psychological concerns of carriers, and reproductive options.

Key concepts:

  • A carrier is a woman who has a mutation in one of her two copies of the dystrophin gene.
  • A carrier female is a carrier for Duchenne muscular dystrophy or for Becker muscular dystrophy, not for both.
  • A carrier female has a 50% chance of passing the mutation on to each of her children. If a son inherits the mutation, he will have Duchenne or Becker muscular dystrophy. If a daughter inherits the mutation, she will be a carrier for Duchenne or Becker muscular dystrophy.
  • Most carriers have no health effects, though adult carriers should have a periodic cardiac evaluation.