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Our Focus:
Duchenne Muscular Dystrophy (DMD)
We support all people, families and caregivers living with rare diseases, this Rare Disease Day and every day

Duchenne muscular dystrophy (DMD) is a rare, genetic muscle disease that primarily affects males and is characterized by muscle loss that worsens continuously as boys age. Loss of strength and function typically first appears in pre-school-age boys. As the disease progresses, the severity of damage to skeletal and cardiac muscles results in patients experiencing a total loss of ambulation in the pre-teenage or early teenage years. Disease progression in the teen years typically includes worsening cardiac and respiratory symptoms and loss of upper body function. There are no transformative therapies and no cure for DMD.

Each person living with DMD has a unique and powerful story to tell

Living with DMD has profound impacts on every part of people’s lives, from work and socializing to family life. Community members have shared moving examples of living with Duchenne with our team and have told us what it would mean to them to have a transformative therapy for their disease.

Catherine and Alan

Meet Catherine and Alan

Catherine and Alan share their journey living with DMD and their hopes for the future

Diana and Jordan photo

Meet Diana and Jordan

Diana shares her family’s journey with Duchenne

Ravi L. photo

Meet Ravi

“I want to be someone:”
Ravi’s journey with DMD

World Duchenne Awareness Day

Every year on September 7th, we join the Duchenne community in recognizing World Duchenne Awareness Day.

About Duchenne Muscular Dystrophy (DMD)


DMD is the most common childhood-onset form of muscular dystrophy. Symptoms are often first detected between 3 and 5 years of age.


DMD results from a genetic mutation in the DMD gene on the X chromosome. This gene regulates the production of dystrophin, a protein essential to healthy muscle development and function. In people with DMD, dystrophin levels are absent or nearly absent, which causes permanent damage to muscle cells. DMD primarily affects males. Females with a DMD mutation can be affected. They also pass the genetic mutation on to their children.


People living with DMD experience a range of symptoms, which may include:

  • Progressive muscle weakness that worsens over time, usually beginning in the upper arms, upper legs and pelvic area and progressing to affect the lower legs, forearms, neck and trunk
  • Enlarged calf muscles
  • Delays in developing motor skills such as sitting, standing or walking
  • Toe walking or waddling gait
  • Breathing problems
  • Cardiomyopathy, or inflammation of the muscles in the heart
  • Varying degrees of cognitive impairment affect approximately one third of patients


There is a significant need for new treatment options for DMD.


For more information about Duchenne, see these additional resources:*

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