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.
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.
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Developmental delay should trigger a creatine kinase (CK) test2,3
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.
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.
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.
A CK test should be carried out if:
|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|
*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
The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.
Physician Neurologist Dr. Luca Bello explains the importance of early diagnosis and key signs and symptoms to look out for in DMD.
Dr. Luca Bello describes the key steps in reaching a DMD diagnosis from an initial suspicion of the condition.
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.
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
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Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
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