Also known as Duchenne/Becker muscular dystrophy, DBMD, pseudohypertrophic muscular dystrophy
What is it?
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that affects the muscles, leading to muscle wasting that progresses over time.1
What Causes It?
Duchenne is caused by a mutation (change) in the DMD gene, which provides instructions for making a protein called dystrophin, which connects and maintains muscle cells’ structure. Mutations in the gene prevent muscle cells in the body from producing dystrophin, causing muscle weakness and heart problems.1
What Are Some Common Symptoms?1
- Delayed motor development (taking longer to learn to sit, stand, or walk)
- Enlarged calf muscles (pseudohypertrophy)
- Muscle weakness
- Toe walking or waddling gait
- Using hands to get up off the floor (Gower’s maneuver)
- Progressive enlargement of hear (cardiomyopathy)
- Breathing problems
How Many People Have It?
Duchenne affects an estimated 16 live male births per 100,000 in the U.S.2
Duchenne and Becker muscular dystrophy. MedlinePlus website. https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/. Accessed January 6, 2021.
Duchenne muscular dystrophy. NIH: Genetic and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Accessed January 6, 2021.
Upcoming Community EventsParticipate in Events Near You
The OIFE Annual General Meeting (AGM) will be held in Stockholm Sweden from June 10-11, 2023. All organizations are invited to attend and to speak at the annual general meeting, […]
The month of June is meaningful to the CDKL5 community. Every year in June, the CDKL5 community works to educate and raise awareness about the disorder.
June 23 is X-linked hypophosphatemia (XLH) Awareness Day. Each year, the XLH community works to educate the general public about the condition and celebrate those who are #XLHStrong.
*These organizations are an incomplete listing of rare disease advocacy groups and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].