Duchenne Muscular Dystrophy

Duchenne is a form of muscular dystrophy that causes progressive weakness and loss of skeletal, cardiac, and respiratory muscles due to lack – or low levels – of dystrophin. Dystrophin is a vital protein the body uses in the protection and maintenance of its muscles.

What causes Duchenne?

Duchenne is caused by a genetic mutation in the dystrophin gene (“DMD gene”) which provides the instructions for making the body’s dystrophin protein. This gene has 79 unique exons (sections) and each exon makes one piece of our body’s dystrophin protein. Due to a genetic mutation, some people with Duchenne are missing one or more exons from their DMD gene.

Who is affected by Duchenne?

Duchenne muscular dystrophy affects mostly males and occurs in an estimated one in 3,600 to 9,300 newborn babies. Duchenne symptoms usually appear between the ages of 2 and 5. No ethnic group has a heightened risk for this type of muscular dystrophy.

What are the symptoms of Duchenne?

Early signs of Duchenne may include delayed ability to sit, stand or walk. There is a progressive loss of mobility and patients with Duchenne will eventually require the use of a wheelchair. Cardiac and respiratory muscle symptoms typically begin in the teenage years, but can appear sooner, and lead to serious, life-threatening complications.

How can symptoms of Duchenne be managed?

Several treatments currently exist for Duchenne.

Steroids to help reduce inflammation
Physical therapy for maintaining or improving the musculoskeletal system
Medical intervention for management of heart and lung conditions
Gene therapy to increase the amount of micro-dystrophin in the body

Since people with Duchenne have little to no dystrophin, a treatment for their Duchenne would ideally raise their dystrophin levels. Exon-skipping therapy can potentially increase dystrophin in people with Duchenne.

Get resources and support for Duchenne

For more information about Duchenne, please visit wespeakduchenne.com.

Our dedicated NS Support team assists patients, caregivers and healthcare professionals throughout the treatment journey. Call us for more information: 833-NSSUPRT (833-677-8778), Monday – Friday, 8 AM to 8 PM ET.