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.

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.

Duchenne muscular dystrophy is a progressive disease presenting in early childhood that needs an accurate and early diagnosis

Once muscle is lost, it cannot be restored.1–3 Therefore, early testing and diagnosis are critical to gain access to the right treatments and services1,4-6

The timeline provides a summary of key motor and non-motor developmental milestones that may be missed in a child presenting with a neuromuscular disorder and children with Duchenne muscular dystrophy.

Recognising red flag signs and symptoms

Children with developmental delays or other signs of Duchenne muscular dystrophy should have a creatine kinase (CK) test
For more information about CK testing, click here


Children with developmental delays should have a creatine kinase (CK) test

If a child is failing to meet developmental milestones, it could be due to a neuromuscular disorder.1,2 Primary care physicians are ideally placed to recognise the early signs and symptoms of neuromuscular disorders, so that children can be referred to a neuromuscular specialist without delay.1,2 To check the red flag signs and symptoms click here.

If you suspect a neuromuscular disorder, order a CK blood test.1
• Elevated CK levels reflect muscle damage, and are a sign of certain neuromuscular disorders1–5
• A CK test is quick, simple and inexpensive1,3,6

A CK test should be carried out if:

  • Examination and medical history suggest progressive muscle weakness7-9
  • A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months2,7,8,10
  • A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem7
  • A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function2
  • Blood tests reveal an unexplained increase in transaminases 2

Refer all patients with elevated CK levels or missed motor milestones8,11

All patients who have elevated CK levels should be promptly referred to a neuromuscular specialist.8,11

Normal or mildly elevated CK does not rule out neuromuscular disorder. If a patient has missed motor milestones, they should also be referred to a neuromuscular specialist.8

Prompt referral is vital to give your patients the best chance of better outcomes1,2

A neuromuscular specialist can then:2

Identify the child’s exact mutation2
Confirm Duchenne muscular dystrophy with a genetic diagnosis and identify the specific mutation causing the disease2

Define best management options2
Decide upon appropriate treatment and interventions to help delay disease progression2

Developmental delay should trigger a CK test

Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families.3,13 Learn more about CK testing here.

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