Signs and symptoms of Duchenne muscular dystrophy (DMD)
Dr. Luca Bello discusses the importance of early diagnosis of DMD and how to recognise the early signs and symptoms (muscle weakness, not walking by 16-18 months, calf hypertrophy, cognitive and speech delay). If you suspect DMD, perform a creatine kinase (CK) test.
Click here to check the red flag signs and symptoms. If you suspect Duchenne muscular dystrophy, perform a creatine kinase (CK) test. Click here to learn more.
Reaching a Duchenne muscular dystrophy (DMD) diagnosis from an initial suspicion of the condition
Suspicion of DMD – next steps for diagnosis
Watch this video to hear from Dr. Luca Bello, Physician Neurologist from Padova, Italy discussing the diagnostic journey for a DMD patient. Starting with a creatine kinase (CK) test to the importance of an accurate diagnosis through genetic testing to enable the correct medical management options to be identified.
Don’t wait to investigate suspicions of Duchenne muscular dystrophy. Order a CK test, elevated CK levels should prompt referral to a neuromuscular specialist for further testing.
What are the early signs and symptoms of Duchenne muscular dystrophy?
The onset of symptoms occurs in childhood.1 Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:2
- Delayed motor development2
- Difficulty rising to stand or not walking well by 18 months1,3
- Delayed speech and/or cognitive delay2
How a DMD child might rise from the floor: Gowers’ manoeuvre4–6
The difference in calf muscles of a healthy boy versus a boy with DMD
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Recognising red flag signs and symptoms
Developmental delay should trigger a creatine kinase (CK) test2,3
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
Duchenne2,3
Duchenne is the most common and severe form of muscular dystrophy among children, and accounts for >50% of all cases. It primarily affects males.
Becker2,3
Becker is less common and severe than Duchenne but presents with similar symptoms.
Myotonic2
Myotonic is the most common adult form of muscular dystrophy.
Congenital2
Congenital muscular dystrophy appears at birth or by age 2.
Emery-Dreifuss2
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.
Distal2
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.
Oculopharyngeal2
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.
The Duchenne muscular dystrophy (DMD) journey: from symptom onset to management
From the recognition of symptoms to treatment and supportive care, there are multiple stages in the management of a patient with DMD.
In this video, Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of Duchenne. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.
Click here to learn more about diagnosis and management of Duchenne muscular dystrophy
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
Duchenne muscular dystropy (DMD): What is it and how is it managed?
From the recognition of symptoms to management and supportive care, there are multiple stages in the management of a patient with DMD.
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.
What is creatine kinase (CK)?
Creatine kinase (CK) is an enzyme found in skeletal muscle as well as in the heart, brain and other tissues. Increased amounts of CK are released into the blood when there is muscle damage.1 Elevated CK levels reflect muscle damage in patients with Duchenne muscular dystrophy, making it an important diagnostic marker for the condition.2
When to order a CK test
A CK test should be carried out if:
- Examination and medical history suggest progressive muscle weakness1,3,4
- A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months1,3,5,6
- A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem3
- A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function6
- Blood tests reveal an unexplained increase in transaminases6
What the results mean1,6
| IF CK IS ELEVATED (Normal range is generally up to 250 U/L*)1 | Refer to neuromuscular specialist for Duchenne muscular dystrophy gene testing6 |
| IF CK IS NORMAL | Does not rule out other neuromuscular disorders1 |
Developmental delay should trigger a CK test
*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.1
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families1,9
Expert insights
The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.
Signs and symptoms of Duchenne muscular dystrophy (DMD)
Physician Neurologist Dr. Luca Bello explains the importance of early diagnosis and key signs and symptoms to look out for in DMD.
Suspicion of Duchenne muscular dystrophy (DMD)
Dr. Luca Bello describes the key steps in reaching a DMD diagnosis from an initial suspicion of the condition.
Duchenne muscular dystrophy (DMD): From signs and symptoms to management
Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of DMD. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.
Duchenne muscular dystrophy (DMD): What is it and how is it managed?
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.
Read more on how you can help aid recognition and diagnosis of Duchenne muscular dystrophy