DMD and BMD are caused by a mutation (change) in a gene. To confirm this mutation, you need a DNA-based genetic testing. The gene is located on the X-chromosome and is inherited in a recessive manner. This means that in general only boys can have the disease. Females can, however, be carriers, who can pass on the disease to their sons, and the mutated gene to their daughters. In most cases female carriers do not experience any disease symptoms. Mothers usually find out they are a carrier once their son is diagnosed with Duchenne or Becker muscular dystrophy.
In one third of the cases, a mutation is not inherited, but happens spontaneously. In that case the person with Duchenne or Becker is often the first in the family. The chances are really small that other female members are Duchenne carriers.
If you are a carrier, it is a good idea to inform other women in your family. Female family members (daughters, sisters, aunts, nieces) may also be a carrier. A genetic counselor can let you know which family members are at risk of being carriers. It is advised to talk with your family since:
What to tell your family about the heritability of DMD/BMD and how you can tell this, depends on what suits you best. If they consider genetic testing or have additional questions, they could ask their general practitioner to refer them to a clinical geneticist.
Sharing this news might make them feel uncomfortable or uncertain. You can try comforting them, and direct them to a clinician or genetic counselor for support. Remember it’s not your job to convince your family members to have genetic testing. This is their own decision.
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