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Alan E H Emery

, Francesco Muntoni

, and Rosaline Quinlivan

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date: 23 January 2021

Since DMD is a serious disorder for which, at present, there is no effective treatment, much emphasis has been given to prevention. This involves the ascertainment of women likely to have an affected son and the provision of genetic counselling and prenatal diagnosis for such women. The ascertainment of women at risk could be achieved by screening the entire population for affected boys or by screening women within known affected families. Screening for affected boys in the newborn period has the advantage that such early detection might lead to the prevention of second cases in a family. A number of neonatal screening programmes have been developed with some success.

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