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

1. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
2. Dent KM, et al. Am J Med Genet. 2005;134:295–298.
3. Garcia S, et al. Int J Med Sci. 2014;11:988–993.
4. CDC. Muscular Dystrophy. Available at: https://www.cdc.gov/ncbddd/musculardystrophy/inheritance.html [last accessed November 2020].

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