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 makes 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, 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 and lead to serious, life-threatening complications.

How can symptoms of Duchenne be managed?

Since people with Duchenne have little to no dystrophin, a treatment for their Duchenne would ideally raise their dystrophin levels. Several treatments currently exist 
for Duchenne.

Unfortunately, these treatments do not increase dystrophin levels in the body. However, exon-skipping therapy can potentially increase dystrophin in people with Duchenne.

Steroids
to help reduce inflammation

Physical therapy
for maintaining or improving the musculoskeletal system 

Medical intervention 
for management of heart and
lung conditions

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.

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.

Sources

1. https://www.hopkinsmedicine.org/health/conditions-and-diseases/duchenne-muscular-dystrophy
2. Mah, J. K. et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul. Disord. 24, 482–491.