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.
Access the e-learning module and select the course ‘Recognising Neuromuscular Disorders’.
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. https://link.springer.com/article/10.1007/s10654-020-00613-8
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. https://www.jpeds.com/article/S0022-3476(18)31550-6/fulltext
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
http://www.treat-nmd.eu/care/dmd/diagnosis-management-DMD/
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. http://www.treat-nmd.eu/care/dmd/family-guide/translations/
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789806/
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. https://www.ncbi.nlm.nih.gov/pubmed/32112218
Check out the meetings and events section for upcoming international (or local) congresses and events
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.
Click to download the materials.
For more information about Duchenne muscular dystrophy contact us at info@takeonduchenne.eu
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
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.
Access the full International Duchenne Care Considerations here.
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