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
Deletion, duplication, point and other small mutations can cause Duchenne muscular dystrophy1,3,4
Knowing the mutation type can be helpful for medical management options, and the possibility of enrolling into clinical trials.4,5
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing. 4
Only genetic testing can identify the dystrophin gene mutation type; this is important for genetic counselling, prenatal diagnosis and considering mutation-specific therapies
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.
(excluding UK and Ireland)
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