One in 50 Million: Being a Woman with Duchenne Muscular Dystrophy

Chances are, you’ll never meet a woman with Duchenne muscular dystrophy, or Duchenne.??Largely considered to be a ‘male-only’ disease, Duchenne affects one in every 3,500 men, but only one in every 50 million women.

Duchenne is a challenging disease for anyone, with most becoming wheelchair bound in their teens as well as facing progressive muscle weakness, breathing difficulties, heart problems, and losing the use of their arms.?But navigating it as a one in 50 million woman calls for incredible resilience and strength.??That’s why, this World Duchenne Awareness Day, we’re celebrating the women living with Duchenne, and also the women who act as caregivers, spouses, sisters, clinicians, scientists and patient advocates supporting those with the condition. Today is an opportunity to better acknowledge the needs and challenges that these women face and reflect on how they can be better supported.?

Duchenne is a rare disease caused by mutations in the gene for dystrophin, a protein which is vital to protect and strengthen muscles.?Dystrophin is encoded by the X-chromosome, meaning that males have one copy of the gene, whilst females have two. For this reason, females with a single dystrophin mutation tend to be asymptomatic carriers of Duchenne, as their second gene produces the functional protein. Those who are affected by a single gene mutation tend to exhibit cardiac symptoms only.1,5?In extremely rare cases, however, a woman’s second dystrophin gene is also mutated, or becomes inactive, allowing the disease to manifest.

Understanding Duchenne in women

While the presence of Duchenne muscular dystrophy in men has a strong body of research behind it, there is a very little research on its impact on women.2?What is known is that 8% of female Duchenne carriers face varying levels of symptoms, that typically are less severe than in males.2?One of the primary differences, according to the limited reports on women with Duchenne, is that their muscular weakness is asymmetrical, and the onset of symptoms happens across a wide range of ages.2?Because the definition of Duchenne in women isn’t clear, recruitment in clinical trials and representation is impacted.

Despite the challenges of living with Duchenne, women can and have done incredible things. From increasing recognition and representation for disabled people in the film industry, to sharing knowledge on how to travel the world as a person in a wheelchair, these women have made a real impact on their communities.

This Duchenne Awareness Day, take some time to learn more about the women who make up the Duchenne community, and the impact they have. From patients, to caregivers, to advocates, each woman has her own unique story, which you can learn more about by visiting www.worldduchenneday.org.

References

SILVA, Thiago Henrique da et al. Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy. Arquivos de Neuro-Psiquiatria [online]. 2020, v. 78, n. 3 [Accessed?22 August 2022] , pp. 143-148. Available from: <https://doi.org/10.1590/0004-282X20190168>. Epub 3?Feb?2020. ISSN 1678-4227. https://doi.org/10.1590/0004-282X20190168.

Viggiano, E., Ergoli, M., Picillo, E.?et al.?Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.?Hum Genet?135, 685–698 (2016). https://doi.org/10.1007/s00439-016-1666-6

Mendell JR, Lloyd-Puryear M.?Muscle Nerve.?2013;48:21–26.

NORD. Rare Disease Database. Duchenne Muscular Dystrophy. Available at:?https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/. Last accessed: April 2022.

Jonathan?Broomfield,?Micki?Hill,?Michela?Guglieri,?Michael?Crowther,?Keith?Abrams.?Life Expectancy in Duchenne Muscular Dystrophy Reproduced Individual Patient Data Meta-analysis.?Neurology?Dec 2021,?97?(23)?e2304-e2314;?DOI:10.1212/WNL.0000000000012910