Duchenne muscular dystrophy (DMD) key publications

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

A systematic review and meta-analysis 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

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. https://www.jpeds.com/article/S0022-3476(18)31550-6/fulltext

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

This 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.

https://treat-nmd.org/resources-support/care-overview/the-diagnosis-management-of-dmd/

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. https://treat-nmd.org/resources-support/care-overview/the-diagnosis-management-of-dmd/guide-for-families/

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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789806/

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;41:1677–1683. https://www.ncbi.nlm.nih.gov/pubmed/32112218