Implementation of hospital-based supplemental Duchenne muscular dystrophy newborn screening (sDMDNBS): a pathway to broadening adoption

RB Parad, Y Sheldon, A Bhattacharjee - International Journal of Neonatal …, 2021 - mdpi.com
Duchenne muscular dystrophy (DMD) is not currently part of mandatory newborn screening,
despite the availability of a test since 1975. In the absence of screening, a DMD diagnosis is …

Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina

KS Kucera, BL Boyea, B Migliore, SN Potter… - Genetics in …, 2024 - Elsevier
Purpose Current and emerging treatments for Duchenne muscular dystrophy (DMD) position
DMD as a candidate condition for newborn screening (NBS). In anticipation of the …

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

NP Tavakoli, D Gruber, N Armstrong… - Annals of Clinical …, 2023 - Wiley Online Library
Objective Duchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in
progressive muscle weakness and atrophy, cardiomyopathy, and in late stages …

Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy

JR Mendell, M Lloyd‐Puryear - Muscle & nerve, 2013 - Wiley Online Library
This report summarizes the progress made in newborn screening for Duchenne muscular
dystrophy (DMD). This subject was discussed fully at a symposium held on September 11 …

A roadmap to newborn screening for Duchenne muscular dystrophy

SA Al-Zaidy, M Lloyd-Puryear, A Kennedy… - International journal of …, 2017 - mdpi.com
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular
dystrophy, with an estimated frequency of 1: 5000 live births. The impact of the disease …

Newborn screening for Duchenne muscular dystrophy: first year results of a population-based pilot

MJ Hartnett, MA Lloyd-Puryear, NP Tavakoli… - International Journal of …, 2022 - mdpi.com
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis
within the newborn period a high priority. We undertook a consortia approach to advance …

Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan

YH Chien, NC Lee, WC Weng, LC Chen… - Neurological …, 2022 - Springer
Background Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked
muscular disease with an overall incidence of 1: 5,000 live male births. Recent availability in …

Identifying non–Duchenne muscular dystrophy–positive and false negative results in prior Duchenne muscular dystrophy newborn screening programs: a review

MA Gatheridge, JM Kwon, JM Mendell… - JAMA …, 2016 - jamanetwork.com
Importance Duchenne muscular dystrophy (DMD) is a candidate for the recommended
universal screening panel based on evidence that early corticosteroid treatment improves …

[HTML][HTML] Clinic-based infant screening for Duchenne muscular dystrophy: a feasibility study

A Cyrus, N Street, S Quary, J Kable, A Kenneson… - PLoS …, 2012 - ncbi.nlm.nih.gov
Purpose. The purpose of this study was to assess the desirability of Duchenne muscular
dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of …

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment

Q Ke, ZY Zhao, R Griggs, V Wiley, A Connolly… - World Journal of …, 2017 - Springer
Abstract Background Newborn screening for Duchenne muscular dystrophy (DMD) is
currently being initiated in Zhejiang Province, China and is under consideration in other …