Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. The disease almost always affect boys, and they tend to be diagnosed before the age of 5. Duchenne muscular dystrophy is classified as a rare disease. There are around 2,500 patients in the UK and an estimated 300,000 sufferers worldwide.

Children born with Duchenne muscular dystrophy have a fault, known as a mutation, on their dystrophin gene, the longest gene in the body. The fault means that they cannot produce dystrophin, a protein that is vital for muscle strength and function. This lack of dystrophin results in a progressive deterioration of muscle strength and function.

You can read more about the disease in our Duchenne In Detail section.

Diagnosing Duchenne

The first noticeable symptom of Duchenne may be a delay in the motor milestones of a young child. These milestones include sitting and standing independently. Further tests are then needed to diagnose Duchenne, starting with a blood test and then followed by either genetic tests or a muscle biopsy. Read here for more information on diagnosing Duchenne.

Newly Diagnosed

Diagnosis can be a time of overwhelming shock and despair. Feelings of anger, fear, helplessness, guilt and loneliness can be overwhelming. We have provided information here that we hope will help you navigate your way through this difficult time. We give advice on what you can do now, for you, and for your child. 

You are not alone. We've provided the first hand testimonies of some of our family supporters. If you’d like to talk to other parents in this situation, email us and we will connect you to families with children of similar age.

Our guide for newly diagnosed families is here.

Stages Of Duchenne

Duchenne muscular dystrophy is a progressive muscle-wasting disease, which means that symptoms worsen over time. Some parents prefer to read about the stage their child is currently at, while others want to know everything about the different future stages. We have divided up the stages of Duchenne muscular dystrophy here.

Current Drugs & Supporting Therapies

There are currently very few drugs that are prescribed for Duchenne. We have summarised these here. There are some supporting therapies that are recommended to help manage the symptoms of Duchenne, and you can read more about those here.

Treatments In The Pipeline

There are many drugs now in development to treat the underlying cause and the various symptoms of Duchenne muscular dystrophy. The landscape has changed beyond recognition in recent years. Some drugs are now being tested on patients with Duchenne muscular dystrophy and many others are about to start clinical trials. Read more here.

Learn About Clinical Trials

If you are interested in learning more about research, read here about the process of a clinical trial and what may be involved.

Emergency Care app

Download the App developed by the DMD comunity and funded by us, to help you learn what to do in an emergency. Read more here.

Patient and Parent Stories

If you would like to read some personal stories from families affected by Duchenne then please read our Patient and Parent Stories page, here.