Disease spotlight: Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness.

Duchenne is a rare disorder, but among genetic conditions it is one of the most frequently seen.

• Duchenne affects around 1 in 3,500 male births worldwide and is usually first diagnosed between the ages of three and six.
• The disease is caused by a single genetic flaw which means that dystrophin is not produced in the body. Dystrophin is a protein that helps maintain muscle cells, and without it these become fragile and start to fail.
• DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. This means the disease primarily affects boys, but in a few rare cases it can affect girls.
• Becker muscular dystrophy (BMD) is a milder version of DMD. Its onset is usually in teens or early adulthood, and its progression is slower and less predictable than that of DMD.

Until the last few decades, having DMD meant survival was unlikely beyond teenage years. Now, thanks to advances in care, it is common for young men with Duchenne to live well into their 30s, with some living much longer.

However, the progressive nature of the disease means muscle weakness eventually leaves Duchenne patients unable to walk, and they may require a ventilator to assist breathing.

New hope for progress in medical treatment of the disease came has come in the last few years, with the first ever products approved in the US and Europe to treat DMD.

The last few years have seen an upsurge in the number of clinical trials for new drugs for Duchenne, including a variety of gene therapy treatments.

To find out more about DMD, read our featured content below.