Related Experiment Video
Updated: Jul 10, 2026
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Duchenne muscular dystrophy: issues in expanding newborn screening
Alex R Kemper1, Melissa A Wake
1Program on Pediatric Health Services Research, Department of Pediatrics, Duke University, Durham, North Carolina 27705, USA. alex.kemper@duke.edu
Insights
Newborn screening for Duchenne muscular dystrophy shows variable accuracy and causes parental anxiety. Insufficient data exist on benefits, costs, and long-term impacts to recommend routine screening.
Area of Science:
- Medical screening
- Genetics
- Pediatrics
Background:
- Newborn screening aims to detect genetic disorders early.
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting muscle function.
- Evaluating screening programs requires understanding potential risks and benefits.
Purpose of the Study:
- To assess the risks and benefits of newborn screening for Duchenne muscular dystrophy.
- To identify knowledge gaps in current evidence regarding DMD screening.
- To inform recommendations for future newborn screening policies.
Main Methods:
- Review of existing literature on Duchenne muscular dystrophy newborn screening.
- Analysis of reported positive predictive values for creatine kinase screening.
- Evaluation of data on parental anxiety and reproductive planning.
Main Results:
- Positive predictive values for DMD screening vary significantly.
- Screening can cause parental anxiety due to early detection and false positives.
- Limited data exist on the impact of early diagnosis on children and cost-effectiveness.
Conclusions:
- Current data are insufficient to recommend routine newborn screening for Duchenne muscular dystrophy.
- Further research is needed to evaluate the risks, benefits, and costs of DMD screening.
- Understanding evidence gaps is crucial for developing informed screening guidelines.
Purpose Of Review:
To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne muscular dystrophy.
Recent Findings:
There is a wide range in the reported positive predictive value for screening male newborns for Duchenne muscular dystrophy by the creatine kinase level on dried blood spots. Some parental anxiety is associated with both early detection and false-positive screening results. No data are available about the impact of the diagnosis on the child, including the impact of early initiation of therapy. Studies suggest that few parents change their future reproductive planning based on identification of Duchenne muscular dystrophy through screening. Few data are available regarding the cost of newborn screening for Duchenne muscular dystrophy, and there are insufficient data to evaluate the cost-effectiveness of Duchenne muscular dystrophy screening.
Summary:
Available data are insufficient to recommend routine newborn screening for Duchenne muscular dystrophy. Understanding the gaps in knowledge provides insight into the evidence needed to recommend newborn screening for Duchenne muscular dystrophy. Studies are needed to evaluate the potential risks and benefits of screening, including the associated incremental costs.
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
01:20Inborn Errors of Metabolism
01:28Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...