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 is caused by a genetic mutation that prevents the body from producing dystrophin, a protein that muscles need to work properly. Without dystrophin, muscle cells become damaged and weaken. Over time, children with Duchenne will develop problems walking and breathing, and eventually the muscles that help them breathe and the heart will stop working. Duchenne is an irreversible, progressive disease. There is currently no cure for Duchenne.
Duchenne by the numbers
One of more than 30 forms of muscular dystrophy
Occurs in 1 in 3,500 to 5,000 males born world wide
Average age of diagnosis
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
Duchenne's effect on the brain
- 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
- Children with Duchenne are more likely to have such conditions as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD), learning disorders such as dyslexia, and obsessive-compulsive disorder (OCD)
- In addition, abnormal electrical activity in the brain makes children with Duchenne more prone to developing epilepsy (seizures)
The difference between Duchenne muscular dystrophy and Becker muscular dystrophy
You'll often hear Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) spoken about together. BMD is another type of muscular dystrophy with symptoms like Duchenne, but it is a milder form. BMD is also caused by a change to the gene for dystrophin, but people with BMD make an abnormal but working version of dystrophin. This still results in muscle weakness and damage, but it is less severe and worsens more slowly than in Duchenne.