How genetic mutations cause Duchenne muscular dystrophy (DMD)

Approximately one-third of DMD cases are thought to arise because of de novo mutations, with the remaining two-thirds of cases inheriting the mutation from carrier mothers.1,2

How is DMD inherited?

DMD is inherited in an X-linked recessive pattern. Since males have only one X chromosome, a mutation in the gene responsible for DMD is sufficient to cause the condition.4

Females have two X chromosomes, so a mutation would have to occur in both copies of the gene responsible for DMD to cause the disorder.4

In X-linked recessive inheritance, a female with one mutated copy of the gene can pass it on to her children. Every son and daughter of a female carrier has a 50% chance of inheriting the faulty gene. Sons who inherit the faulty gene will have DMD, while daughters will be carriers.4

DID YOU KNOW: Duchenne muscular dystrophy is inherited in an X-linked recessive pattern4

Carriers of Duchenne muscular dystrophy (DMD): symptoms & care

Approximately 10% of female carriers show some disease manifestations,1,2 which include:
muscle

Muscle weakness3-5

Cardiomyopathy3,4

Central nervous system manifestations4

Adapted from references 3-5

The 2018 Duchenne Care Considerations recommend performing cardiac assessment in all female carriers in early adulthood every 3–5 years.3 This should consist of an electrocardiogram and non-invasive imaging. Assessments should be more frequent in those who are symptomatic or imaging-positive.3

Diagnosis of DMD in children takes an average of 2 years from parental concern. Therefore, carrier women may have more children without realising that they carry a DMD mutation.6-8

Carriers may be at risk of Duchenne muscular dystrophy symptoms.3 Learn about the importance of carrier screening for Duchenne muscular dystrophy here.

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