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.

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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