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

Qing Ke1, Zheng-Yan Zhao2, Jerry R Mendell3

  • 1Department of Neurology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

World Journal of Pediatrics : WJP
|March 25, 2019
PubMed

Insights

Newborn screening for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) is crucial for early diagnosis. Early identification ensures children receive timely treatments, maximizing their effectiveness and improving disease outcomes.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) treatments show promise for affected children.
  • Early genetic diagnosis is key to maximizing treatment efficacy for these progressive neuromuscular disorders.
  • Newborn screening (NBS) for SMA is recommended in the US, with a pilot DMD NBS program in China.

Purpose of the Study:

  • To review current FDA/EMA-approved treatments for DMD and SMA.
  • To assess the status of newborn screening (NBS) programs for DMD and SMA globally.
  • To provide recommendations for the future implementation and improvement of NBS for these conditions.

Main Methods:

  • Conducted a 5-year PubMed literature search.
  • Identified approved therapeutic advancements for DMD/SMA.
  • Examined the status and outcomes of NBS programs for DMD/SMA.

Main Results:

  • Reviewed current approved treatments for DMD and SMA.
  • Analyzed the progress and challenges of SMA NBS in New York and DMD NBS in Hangzhou.
  • Presented recommendations for future NBS strategies.

Conclusions:

  • Approved DMD and SMA treatments can alter disease progression.
  • Early patient identification via NBS is essential to overcome diagnostic delays and optimize treatment benefits.
  • Successful NBS programs require robust follow-up plans for identified patients.
Abstract

Keywords:
Duchene muscular dystrophyNeurologyNeuromuscular disordersNewborn screeningSpinal muscular atrophy

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