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Key DMD Scientific Publications

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A selection of key scientific papers and professional guidelines on the management of DMD. The ‘Navigating scientific publications’ resource to help you to familiarize yourself with the elements and terms that are commonly seen in different types of scientific publications.

How to reduce the time to a DMD diagnosis

Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.
https://www.jpeds.com/article/S0022-3476(18)31550-6/fulltext

The importance of genetic testing for DMD

Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789806/

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

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 Neuroll. 2018;17:445–455.
http://www.treat-nmd.eu/care/dmd/diagnosis-management-DMD/

DMD care considerations: a guide for families

http://www.treat-nmd.eu/care/dmd/family-guide/translations/

The life expectancy of patients with DMD

Landfeldt E, et al. Eur J Epidemiol. 2020;35:643–653.
https://link.springer.com/article/10.1007/s10654-020-00613-8

The use of pre-natal screening to diagnose DMD before birth

Vita GL, Vita G. Neurol Sci. 2020;41:1677–1683.
https://www.ncbi.nlm.nih.gov/pubmed/32112218

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Date of preparation: September 2022
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Terms and conditions

Important Terms and Concepts

Basic terms and key definitions

Neuromuscular disorders

Neuromuscular disorders affect the muscles and nerves, and most of the causes are genetic. This means they are either passed down through the family or caused by changes in an individual person’s genes.

Most neuromuscular disorders cause muscle weakness that worsens over time. Signs and symptoms of neuromuscular diseases can vary and may be mild, moderate, or severe.

Most often, when a child has a neuromuscular disease, they don’t grow and develop as fast as other children their age. They are often slow to start lifting their head, sitting, walking, and talking.

Treatment and supportive care may improve the symptoms of a neuromuscular disorder, increasing mobility and even life expectancy.

Muscular dystrophy

Muscular dystrophy is the term for a group of neuromuscular disorders that cause muscle weakness and muscle loss.

Duchenne muscular dystrophy (DMD) is a type of muscular dystrophy that causes muscle weakness that worsens over time. The progression and symptoms can vary from person to person.