Duchenne muscular dystrophy: the basics
Duchenne muscular dystrophy, sometimes shortened to DMD or just Duchenne, is a rare genetic disease. It primarily affects males, but, in rare cases, can also affect females. Duchenne causes the muscles in the body to become weak and damaged over time, and is eventually fatal. The genetic change that causes Duchenne — a mutation in the DMD gene — happens before birth and can be inherited, or new mutations in the gene can occur spontaneously. Learn more about the genetics behind Duchenne.
The cause of Duchenne
Duchenne by the numbers
One of more than 30 forms of
Occurs in 1 in 3,500 to 5,000
males born worldwide
Time from initial symptoms to
diagnosis is 2.5 years
More than 90% in
wheelchairs by age 15
One of the most serious genetic diseases in children worldwide
The first signs and symptoms
The first signs and symptoms of Duchenne are often noticed around the age of 2 or 3. Children with Duchenne may be slower to sit, stand or walk. Most are unable to run and jump properly due to weakness in the core muscles of the body.
Common signs and symptoms of Duchenne you may notice:
- Not walking until approximately 18 months of age
- Walking on toes with legs apart, walking with the belly pointed out, or both
- Falling down often
- Needing help getting up from the floor or using arms to “walk” the body to a standing position (Gower’s maneuver)
- Larger calves than other children of the same age or size
- Behavior and learning problems
- Delayed speech
Duchenne's effect on the brain
Children with Duchenne are more likely to have conditions affecting the brain, such as mental health, learning, or seizure disorders. The key protein for muscle function that is missing in Duchenne, dystrophin, is also believed to have a role in brain development.
- In children with Duchenne, the lack of dystrophin is believed to affect the ability of certain brain cells, called neurons, to connect properly and share information
- This can lead to challenges with important brain functions such as attention, memory, learning, speech, and intellectual ability
To learn more about important considerations for parents, visit Parent Project Muscular Dystrophy's Care for Duchenne resource.
The difference between Duchenne muscular dystrophy and Becker muscular dystrophy