If a mother of a child with DMD has a mutation in her DNA that she passes to her child, she is called a “carrier.”

A female who is a carrier and shows some signs of Duchenne (muscle weakness, fatigue, pain, etc.) is known as a “manifesting carrier."

A female who is a carrier has an increased risk of developing cardiac and skeletal muscle weakness and dysfunction.

Female carriers of DMD need to have their hearts checked every 3 to 5 years (ECG, cMRI or echo) if their hearts are normal (more often if recommended), as they can also have the same type of heart problems as people living with Duchenne.

Knowing carrier status helps to identify this risk in order to get appropriate advice and treatment.

We recommend speaking with your doctors and a genetic counsellor to explain all this in detail.