Duchenne Carriers: Your Questions Answered

Being a carrier of Duchenne can affect so many aspects of a woman’s life, including health care, family planning, and mental health. As part of our efforts to better understand and support carrier issues, PPMD is thrilled to present Duchenne Muscular Dystrophy Carriers: Your Questions Answered, a new resource for women who are carriers.

The brochure is a comprehensive guide to the questions most often asked by carriers and is available in both English and Spanish. It was developed in collaboration with carriers and with expert providers from neurology, genetics, cardiology, and psychology.

Download: English >
Download: Spanish >

PPMD’s Ongoing Carrier Initiative

This brochure is part of PPMD’s ongoing commitment to understand, promote, and support the unique health needs of carriers.

• The Duchenne Registry has long encouraged carriers, both those with symptoms and those without, to join the Registry and share their data.
• PPMD provided support to Nationwide Children’s Hospital to initiate a first-of-its-kind carrier study and investigate muscle, heart, and mental health issues in a cohort of more than 200 females over a period of three years. The first results from the cardiac and mental health segments of this study have been published, with important findings in how many carriers have cardiac fibrosis and elevated anxiety and emotional distress.
• PPMD has also supported ImagingDMD, an ongoing muscle MRI study. ImagingDMD is currently enrolling a small number of females into their research to evaluate muscle and fat fraction by MRI, to better understand what muscle looks like in carriers.
• Most recently, PPMD welcomed Dr. Mena Scavina to our team. Dr. Scavina is a neurologist who has special interest in Duchenne and Becker carriers. One of Dr. Scavina’s goals is to develop and implement a standardized model of care for Duchenne carrier females, which currently does not exist.

Thank you to all of our collaborating providers and carriers who contributed to this brochure. We hope it will be a helpful resource for all women who are carriers.

Why is Genetic Carrier Testing Important?

Genetic carrier testing is important for a variety of reasons, including family planning, health care, and mental health. Once Duchenne or Becker has been diagnosed in a family, it is important for family members to talk with a genetic counselor. A genetic counselor will take a detailed family history and will determine what other females in the family are at risk to be carriers.

Free genetic testing and counseling is available to people in the Duchenne and Becker muscular dystrophy community, including carriers, through PPMD’s Decode Duchenne genetic testing program. For more information, click here.

Looking for additional support? Contact a Certified Genetic Counselor

PPMD’s board-certified genetic counselors have expertise in Duchenne and are available to answer your questions. Click here to contact a genetic counselor.