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
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.
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.
FSHD refers to the areas affected – the face (facio), shoulders (scapulo) and upper arms (humeral). It typically affects adolescents.
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.
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
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
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.
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.
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
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.
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
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
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
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families.3,13 Learn more about CK testing here.
DMD is inherited in an X-linked recessive pattern. Since males have only one X chromosome, a mutation in the gene responsible for DMD is sufficient to cause the condition.4
Females have two X chromosomes, so a mutation would have to occur in both copies of the gene responsible for DMD to cause the disorder.4
In X-linked recessive inheritance, a female with one mutated copy of the gene can pass it on to her children. Every son and daughter of a female carrier has a 50% chance of inheriting the faulty gene. Sons who inherit the faulty gene will have DMD, while daughters will be carriers.4
DID YOU KNOW: Duchenne muscular dystrophy is inherited in an X-linked recessive pattern4
Deletion, duplication, point and other small mutations can cause Duchenne muscular dystrophy1,3,4
Knowing the mutation type can be helpful for medical management options, and the possibility of enrolling into clinical trials.4,5
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing. 4
Only genetic testing can identify the dystrophin gene mutation type; this is important for genetic counselling, prenatal diagnosis and considering mutation-specific therapies
Dystrophin is present in all muscles, including skeletal, cardiac and respiratory muscle.2,4,5 Dystrophin is a structural protein that provides mechanical stability5–7
Once muscle is lost it cannot be replaced.2,10,12 The absence of dystrophin in Duchenne muscular dystrophy results in ongoing muscle damage, and replacement of muscle fibres by scar tissue and fat12
By the age of 5, prominent muscle weakness becomes evident with a 50–60% drop in strength14
By age 6, only 60% of predicted muscle mass is retained, decreasing to just 20% at age 1615
Early intervention is critical to help delay disease progression and treat potentially life-threatening complications.2,8–10
Click here to find out how you can help.
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.
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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