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

Qing Ke, Zheng Yan Zhao, Robert Griggs, Veronica Wiley, Anne Connolly, Jennifer Kwon, Ming Qi, Daniel Sheehan, Emma Ciafaloni, R. Rodney Howell, Petra Furu, Peter Sazani, Arvind Narayana, Michele Gatheridge

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations


Background: Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province, China and is under consideration in other countries, including the United States. As China begins to implement DMD newborn screening (DMD-NBS), there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative results. Data sources: Relevant papers related to DMD-NBS, and NBS in China were reviewed in PubMed. Results: The current state of DMD-NBS is discussed, along with the steps needed to effectively screen infants for this disease in China, recommendations for establishment of follow up care in patients with positive and negative screens, and measurement of patient outcomes. Conclusions: Zhejiang Province, China is ready to implement DMD-NBS. Future challenges that exist for this program, and other countries, include the ability to track patients, assist with access to care, and ensure adequate follow-up care according to evidence-based guidelines. In addition, China’s large rural population, lack of specialty providers, and difficulty in educating patients regarding the benefits of treatment create challenges that will need to be addressed.

Original languageEnglish
Pages (from-to)197-201
Number of pages5
JournalWorld Journal of Pediatrics
Issue number3
StatePublished - Jun 1 2017


  • Duchene muscular dystrophy
  • neurology
  • neuromuscular disorders
  • newborn screening


Dive into the research topics of 'Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment'. Together they form a unique fingerprint.

Cite this