The genetics of Duchenne can get a bit involved, but it’s important to address when understanding common experiences of the women in our community. Carrier status is integral to quality of life in a multitude of ways.

From germline mosaicism to asymptomatic carriers, manifesting carriers, women with Duchenne, sisters, mothers and grandmothers, the effects of Duchenne go far beyond the physical for our females. In fact, anxiety, guilt, blame and exhaustion frequently keep close company with the women in our Duchenne community.

Genetics – A Brief Overview

About ⅓ of the cases of DMD are spontaneous mutations in the child himself (or herself). In the remaining ⅔ of the occurrences of Duchenne, the mutation is inherited from the mother.

DMD symptoms are typically most severe in males. The Duchenne mutation is found on the X chromosome. Since the male gender has only one X chromosome, they don’t have a second X chromosome to help out with the work the mutated X is unable to do. Females, however, do have a second X chromosome to help, so symptoms tend to be milder.

Just like males with DMD, there’s a spectrum of symptoms for women affected by DMD, largely driven by X inactivation, also called lyonization. Lyonization causes Duchenne symptoms for the female to range from asymptomatic to presenting like a male with Duchenne.

And just like for our males, Duchenne is far more than “just a muscle disease” for females, too.