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Neurological Sciences
Published in: Neurological Sciences 7/2020

Open Access 01-07-2020 | Public Health | Review Article

Is it the right time for an infant screening for Duchenne muscular dystrophy?

Authors: Gian Luca Vita, Giuseppe Vita

Published in: Neurological Sciences | Issue 7/2020

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Abstract

Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK/DNA screening programme is presented to be performed in male infants aged between 6 months and 42 months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.
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Metadata
Title
Is it the right time for an infant screening for Duchenne muscular dystrophy?
Authors
Gian Luca Vita
Giuseppe Vita
Publication date
01-07-2020
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 7/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-020-04307-7

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