Clinical Genetics, Paediatrics

Duchenne Muscular Dystrophy

Introduction to Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a genetic condition which affects the muscles and causes weakness. It is first noticed when children try to stand, climb or run and mainly affects males.

Written by Doctify Team 27/04/2020

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a genetic condition which affects the muscles and causes weakness. It is first noticed when children try to stand, climb or run and as it affects the X-chromosome, it mainly affects males (as they only have one X chromosomes, whereas females have two). DMD is a rare condition and affects about 1 in 3’500 boys in the UK.

What causes Duchenne Muscular Dystrophy?

A genetic change results in defective and reduced production of an essential protein called dystrophin, which is required for normal muscular activity. In DMD, the mutation means that there is a lack of dystrophin and this causes muscle fibre damage and subsequent weakness. Doctors diagnose DMD by firstly detecting levels of a marker that represents muscle damage called creatinine kinase. If this is raised, then a muscle biopsy is taken to look at the structure of it and to identify if the dystrophin protein is defective. Genetic tests can also be done to confirm the diagnosis of DMD by identifying the mutation.

What are the symptoms of Duchenne Muscular Dystrophy?

Muscle weakness is the main symptom of DMD. It usually becomes noticeable around the age of 1-3 years old, when an affected child may struggle to stand, climb or run. The gait of the child may be described as ‘waddling’ and they may rely on their upper body to stand up (push themselves up off the floor). There may also be delayed milestones such as speech. As the disease progresses, muscles all around the body can become affected and patients can have difficulty swallowing, breathing and can have heart complications.

How is Duchenne Muscular Dystrophy treated?

There is currently no cure for DMD. Mobility and breathing assistance can help muscle weakness that can reduce mobility and strength. Regular physiotherapy and the use of aids (e.g. wheelchairs) can improve mobility and strength. Occupational therapists can maximise independence and change the living environment to make it more suitable and user friendly for a DMD patient. Certain medications are of use in DMD, such as corticosteroids, which have been proven to increase the functioning and strength of the muscles over time. As the disease progresses, management is directed towards assisting with higher demand tasks such as swallowing. Complications are managed as they arise, such as using ACE-inhibitors, beta-blockers, other medications and pacemakers to treat heart problems such as arrhythmias. There has been lots of research into treatment for DMD and there are clinical trials looking at stem cells as a possible treatment for DMD. Support groups are available for patients and their family members for advice, support and to help cope with the condition.

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