This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Duchenne muscular dystrophy affecting females (female)

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The disease is inherited in an X-linked manner although up to 30% of cases represent new mutations. The gene for Duchenne muscular dystrophy is the dystrophin locus at Xp21.

  • occurs in approximately 1 in 3500 male births, and in about 1 in 50 000 000 female births (1)
    • a female only develops DMD if both of her X chromosomes have faults in their dystrophin genes
    • those very rare females who have DMD are believed to either carry mutant genes on both X chromosomes, or have an inactivated healthy X chromosome (1)
  • females with a mutant X chromosome will not have DMD, but they will be carriers of the disorder
  • a small number of female carriers can develop muscle symptoms, such as myalgia, cramps, or weakness, and learning or behavioural problems (2,3,4,5)
  • female carriers are also at risk of cardiovascular problems - regular cardiovascular monitoring is recommended
  • early counselling for family planning (including discussion about possible pre-implantation or prenatal genetic testing) should be offered to women and girls of reproductive age
    • non-carrier mothers of sons with DMD still have a slightly higher risk of having another affected child compared with the general population and therefore should be offered counselling (4)

Reference:

  1. Yilmaz O et al. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. Eur J Neurol. 2004 Aug;11(8):541-4.
  2. Webb CL. Parents' perspectives on coping with Duchenne muscular dystrophy. Child Care Health Dev. 2005 Jul;31(4):385-96.
  3. Rodger S et al. Adult care for Duchenne muscular dystrophy in the UK. J Neurol. 2015; 262(3): 629–6
  4. Fox H et al. Duchenne muscular dystrophy. BMJ 2020;368:l7012
  5. Lisak RP, Truong DD, Carroll W, Bhidayasiri R (2011). International Neurology. Wiley. p. 222. ISBN 9781444317015.

Related pages

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.