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23.03.2019 | Review Article

Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

verfasst von: Qing Ke, Zheng-Yan Zhao, Jerry R. Mendell, Mei Baker, Veronica Wiley, Jennifer M. Kwon, Lindsay N. Alfano, Anne M. Connolly, Catherine Jay, Hanna Polari, Emma Ciafaloni, Ming Qi, Robert C. Griggs, Michele A. Gatheridge

Erschienen in: World Journal of Pediatrics | Ausgabe 3/2019

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Abstract

Background

Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective. Newborn screening (NBS) for SMA has been recommended in the United States, and a pilot DMD NBS program is underway in Hangzhou, China.

Data sources

A PubMed search, limited to the past 5 years, was conducted to identify: (1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/SMA.

Results

We review the current state of approved treatments for DMD/SMA. We present recommendations regarding the future of NBS for these diseases, with a focus on the outcomes and challenges of SMA NBS in New York, USA, and the DMD NBS pilot program in Hangzhou, China.

Conclusions

Approved treatments for DMD and SMA may change the natural history of these diseases. Long-term studies of these treatments are underway. To avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments, early identification of patients through NBS will be necessary. Establishing comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.

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Titel: Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy
verfasst von: Qing Ke
Zheng-Yan Zhao
Jerry R. Mendell
Mei Baker
Veronica Wiley
Jennifer M. Kwon
Lindsay N. Alfano
Anne M. Connolly
Catherine Jay
Hanna Polari
Emma Ciafaloni
Ming Qi
Robert C. Griggs
Michele A. Gatheridge
Publikationsdatum: 23.03.2019
Verlag: Springer Singapore
Erschienen in: World Journal of Pediatrics / Ausgabe 3/2019
Print ISSN: 1708-8569
Elektronische ISSN: 1867-0687
DOI: https://doi.org/10.1007/s12519-019-00242-6

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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

Abstract

Background

Data sources

Results

Conclusions

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Abstract

Background

Data sources

Results

Conclusions

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