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Updated: Dec 27, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Is it the right time for an infant screening for Duchenne muscular dystrophy?
Gian Luca Vita1, Giuseppe Vita2,3
1Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
Insights
Newborn screening for Duchenne muscular dystrophy (DMD) is gaining traction due to new treatments. A pilot study is proposed to assess the feasibility of a two-step CK/DNA screening program for early DMD detection in infants.
Area of Science:
- Public Health
- Genetics
- Neurology
Background:
- Newborn screening (NBS) is crucial for early identification and treatment of disorders, reducing morbidity and mortality.
- NBS for Duchenne muscular dystrophy (DMD) has faced challenges including false positives, limited effective drugs, and unclear screening efficacy.
- Advancements in DMD treatments necessitate a re-evaluation of screening protocols to enable early intervention.
Purpose of the Study:
- To initiate a discussion among stakeholders on best practices for DMD screening.
- To present a feasible two-step CK/DNA screening program for male infants.
- To evaluate the efficacy of early DMD detection and intervention.
Main Methods:
- A pilot project involving a two-step CK/DNA screening system.
- Targeting male infants aged 6 to 42 months.
- Screening over 30,000 infants to diagnose an estimated 5-8 DMD cases.
Main Results:
- The pilot project aims to assess the feasibility of an infant screening program for DMD.
- Anticipated diagnosis of 5-8 DMD cases within the screened population.
- Data from this pilot will inform future nationwide screening strategies.
Conclusions:
- Early diagnosis and treatment of DMD are becoming increasingly viable due to new therapies.
- A structured screening program is essential to overcome diagnostic delays.
- This pilot study is a critical step towards implementing a national NBS program for DMD.
Abstract:
Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK/DNA screening programme is presented to be performed in male infants aged between 6 months and 42 months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.
