What kind of disease is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that causes progressive muscle damage and degeneration.1,2 It is the most common and severe form of muscular dystrophy among children, and accounts for over 50% of all cases.3 It is caused by a mutation in the dystrophin gene which leads to the absence of, or defects in, dystrophin – an essential protein in the muscle cell membrane.1,4

Duchenne is characterised by progressive decline in muscle function, leading to loss of ambulation and respiratory and cardiac failure1,2

Children with Duchenne suffer with progressive muscle deterioration and an ongoing decline in physical function.5

Muscle weakness becomes apparent in early childhood, and, on average, patients require a wheelchair by the early teenage years.3,5,6

Ultimately, progressive muscle degeneration causes respiratory and cardiac failure, leading to early death.1

Early intervention may improve patient outcomes1,2

  • Once muscle is lost it cannot be restored9, 10
  • Early diagnosis is critical to gain access to the right treatments and services1,2,11
  • The role of primary care is vital as they are in an ideal position to spot early signs of neuromuscular disease, and therefore make a timely referral2,11,12
Timely and accurate diagnosis can enable the patient and family to receive the care and support they need1,2,13

Duchenne muscular dystrophy is a severe progressive disease presenting in early childhood that needs an accurate and early diagnosis.1 Learn how to recognise the early signs and symptoms, click here.

Duchenne muscular dystropy (DMD): What is it and how is it managed?

From the recognition of symptoms to management and supportive care, there are multiple stages in the management of a patient with DMD.

In this video, Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing. She also describes the progressive nature of the disease and discusses her centre’s experience in the management of patients with DMD.

This video is based on professional and expert opinion of Prof. Ros Quinlivan.

Carriers of Duchenne muscular dystrophy (DMD): symptoms & care

Approximately 10% of female carriers show some disease manifestations,1,2 which include:
muscle

Muscle weakness3-5

Cardiomyopathy3,4

Central nervous system manifestations4

Adapted from references 3-5

The 2018 Duchenne Care Considerations recommend performing cardiac assessment in all female carriers in early adulthood every 3–5 years.3 This should consist of an electrocardiogram and non-invasive imaging. Assessments should be more frequent in those who are symptomatic or imaging-positive.3

Diagnosis of DMD in children takes an average of 2 years from parental concern. Therefore, carrier women may have more children without realising that they carry a DMD mutation.6-8

Carriers may be at risk of Duchenne muscular dystrophy symptoms.3 Learn about the importance of carrier screening for Duchenne muscular dystrophy here.

How common is Duchenne muscular dystrophy (DMD)?

DMD is an x-linked recessive disorder that primarily affects males.1,2 While a rare disease, it is the most prevalent of all neuromuscular disorders, affecting 1 out of every 3,600–6000 newborn males worldwide.2-4

If a female carries the mutation in the dystrophin gene on one of the two X-chromosomes, she may also be affected by DMD. Approximately 10% of female carriers show some disease manifestations, with cardiac involvement a frequent finding.2,5

Adapted from MDA6

Duchenne muscular dystrophy primarily occurs in males, but can affect females in some cases.1,2 Learn about carriers of Duchenne muscular dystrophy; symptoms and care here.

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