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 is muscular dystrophy?

The muscular dystrophies are a group of neuromuscular disorders characterised by progressive muscle degeneration and weakness.1 They are caused by mutations in genes that produce either dysfunctional, or insufficient levels of, proteins that are essential for muscle cell stability.1 Children with muscular dystrophy experience progressive muscle deterioration and an ongoing decline in physical function.1

There are different forms of muscular dystrophy2

The muscular dystrophies differ in age of onset, severity, pattern of inheritance, and the muscle groups and other organs affected.1

Duchenne is the most common and severe form of muscular dystrophy among children, and accounts for >50% of all cases. It primarily affects males.

Becker is less common and severe than Duchenne but presents with similar symptoms.

Myotonic is the most common adult form of muscular dystrophy.

Congenital muscular dystrophy appears at birth or by age 2.

Emery-Dreifuss primarily affects boys, with symptoms usually apparent by age 10.

Facioscapulohumeral (FSHD)2
FSHD refers to the areas affected – the face (facio), shoulders (scapulo) and upper arms (humeral). It typically affects adolescents.

Limb girdle2
Most often appears in adolescence or young adulthood. Affects both males and females.

Distal muscular dystrophy is less severe and progresses more slowly than other forms of muscular dystrophy. It typically appears at 40–60 years of age.

Oculopharyngeal muscular dystrophy occurs in both men and women, typically in a person’s 40s or 50s. It can be mild or severe.

Learn how to recognise neuromuscular disorders, click here to access the RCPCH e-learning module.

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