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.

What are neuromuscular disorders?

Neuromuscular disorders encompass a wide range of diseases that affect the voluntary muscles and the nerves that control them.1

They are generally classified depending on the location of involvement, and include:1

Disorders of the muscle (e.g. Duchenne muscular dystrophy)

Disorders of the neuromuscular junction (e.g. congenital myasthenic syndrome)

Disorders of the motor neuron (e.g. spinal muscular atrophy)

Disorders of the peripheral nerve (e.g. Charcot-Marie-Tooth disease)

The majority of neuromuscular disorders that present in childhood have a genetic basis.1 The most commonly encountered genetic paediatric neuromuscular condition is Duchenne muscular dystrophy, which affects 1 out of every 3,600–6000 newborn males worldwide.1-4

What are the signs and symptoms of neuromuscular disorders?

Children with neuromuscular disease experience progressive muscle deterioration and an ongoing decline in physical function.5 The earliest and most common sign of neuromuscular disease is muscle weakness, which manifests as delayed motor development.4,6 Delays in language, speech and cognition should also prompt suspicion that something may be wrong.4,7–9 To learn more about red flag signs and symptoms click here.

Monitoring motor development can help to identify developmental delay earlier, allowing for timely referral to aid the diagnostic process.7

Why early diagnosis matters

Even though neuromuscular diseases are not curable, management and treatment options are available. 10,11

An early diagnosis can facilitate access to the right treatment and services, which may help improve outcomes and help to avoid life-threatening complications. 4,6,10

An early diagnosis can help improve outcomes and avoid life-threatening complications4,6,10 If you suspect a neuromuscular disorder, order a creatine kinase (CK) blood test, click here to learn more.

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