Making sense of genetic testing: The importance of a genetic diagnosis in DMD – Hear from our expert

Are you aware of the diagnostic techniques available for making a genetic diagnosis for children with suspected Duchenne muscular dystrophy (DMD)? Do you know about the critical importance of identifying the specific mutation?

Underscoring the importance of mutation types, Dr Aartsma-Rus discusses key steps for the early diagnosis of DMD. Mutations in the DMD gene eliminate or diminish dystrophin function, causing DMD and Becker muscular dystrophy (BMD; a milder inherited progressive muscle-wasting condition).1,2 As such, establishing a genetic diagnosis is critical for confirming diagnosis of DMD.

Watch now to find out more about the:

  • Disease continuum of DMD and the progressive loss of functionality  
  • Frequency and effect of different types of DMD-causing mutations on the dystrophin transcript
  • Distinctions between mutations found in BMD and DMD
  • Techniques available for making a genetic diagnosis for children with suspected DMD
  • Importance of having a specific genetic diagnosis in the context of disease prognosis and genetic counselling 

Prof. Dr. Annemieke Aartsma-Rus, Professor of Translational Genetics at Leiden University Medical Center (LUMC), the Netherlands, discusses the importance and methods of obtaining an early and accurate genetic diagnosis for DMD. She has played an important role in the development of antisense-mediated exon-skipping therapy for DMD during her PhD research at the Department of Human Genetics of the LUMC. In 2007, she became Group Leader of the Duchenne exon-skipping group. Since 2013, she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

Genetic testing is the only way to diagnose DMD. If you want to know more, click here.

E-learning for healthcare professionals

Interested in learning more on neuromuscular disorders?
Read below to access an e-learning module developed by the Royal College of Paediatrics and Child Health (RCPCH) in the UK.

eLearning Module – Spot the early signs

Recognising neuromuscular disorders – A practical approach

Children with neuromuscular disease experience progressive muscle deterioration and a continual decline in physical function.1 Signs and symptoms usually begin in early infancy, but it can take a long time before a child is diagnosed.1,2 This means missing out on early treatments and interventions that can significantly improve these young patients’ futures.

This eLearning module will help you recognise the early signs of muscle disease so you can refer your patients with confidence.

  • Developed by experts at Newcastle Muscle Centre and Newcastle University in collaboration with the Royal College of Paediatrics and Child Health (RCPCH)
  • Free to take
  • Only takes an hour to complete
  • CME accredited in the UK

This eLearning module has been supported by a financial grant from PTC Therapeutics. PTC Therapeutics have had no involvement in the development of the content of this module.

Access the e-learning module and select the course ‘Recognising Neuromuscular Disorders’.

Key Duchenne muscular dystrophy (DMD) publications

In this section you will discover a selection of published journal articles from DMD scientific and clinical research.

Life expectancy of patients with DMD: 2020 systematic review and meta-analysis

A systematic review and meta-analysis that reviewed the body of published literature on life expectancy at birth in DMD, providing HCPs with an update regarding current prognosis for survival. Landfeldt E, et al. Eur J Epidemiol. 2020;10.1007/s10654-020-00613-8.

How to reduce the time to DMD diagnosis: 2019 expert consensus

This review and expert consensus provides clear recommendations on the steps required to reach a complete diagnosis of DMD. Aartsma-Rus A, et al. J Pediatr. 2019;204:305.

International standard of care guidelines for the diagnosis & management of DMD

2018 update to the 2010 Duchenne Care Considerations outlines the latest in clinical care to help families and healthcare professionals manage DMD. The guidelines represent international consensus on the optimal diagnosis and management of DMD, offering guidance on assessments and interventions for the manifestations and secondary complications of the condition.
Part 1    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267
Part 2    Birnkrant DJ, et al. Lancet Neurol. 2018;17:347–361
Part 3    Birnkrant DJ, et al. Lancet Neurol. 2018;17:445-455

Duchenne Care Considerations: a guide for families

Published in 2018, this guide summarises the 2018 Duchenne Care Considerations in language that is accessible for patients and their families. It aims to give patients, families and caregivers access to the information necessary to enable them to work with their healthcare team in delivering optimal DMD care. The guide is also available in various languages.

The importance of genetic testing for DMD: diagnosis, genetic therapies and implications for family members

This review discusses different mutations causing DMD, how to establish a genetic diagnosis, and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies. Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151.

Infant screening for DMD

This review article presents a two-step CK-DNA pilot screening programme for DMD, which aims to improve rates of screening in infants to facilitate earlier diagnosis. Vita GL, Vita G. Neurol Sci. 2020;10.1007/s10072-020-04307-7.

Check out the meetings and events section for upcoming international (or local) congresses and events

Duchenne muscular dystrophy materials

The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.
Click on the images to view the PDFs.

International Duchenne Care Consideration infographics

international duchenne are consideration info

Why a creatine kinase (CK) test?

What to do if you suspect Duchenne muscular dystrophy

The importance of genetic testing

Patient case study – Diagnosis of Duchenne muscular dystrophy (DMD) in an 8-year-old boy

Patient case study – diagnosis of Duchenne muscular dystrophy (DMD) in two brothers

Click to download the materials.

For more information about Duchenne muscular dystrophy contact us at

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

International Duchenne Care Considerations summaries

PTC have developed these focused, two-page summaries to provide you with a digestible overview of the 2018 International Duchenne Care Considerations. Click on the summaries to view.

Diagnosis and management of Duchenne muscular dystrophy – Part 1
Diagnosis and management of Duchenne muscular dystrophy – Part 2
Diagnosis and management of Duchenne muscular dystrophy – Part 3

Access the full International Duchenne Care Considerations here.

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