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

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.

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

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.