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
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
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