Review of international approaches to screening for Duchenne muscular dystrophy including neonatal screening programs

Duchenne muscular dystrophy (DMD) is one of the most severe and common hereditary neuromuscular disorders characterized by progressive degeneration of muscle tissue, loss of motor function, and early mortality. Despite the availability of certain therapeutic options, disease outcomes largely depend on the timing of diagnosis and the initiation of clinical following-up. One of the most promising approaches to early detection is neonatal screening based on the measurement of creatine phosphokinase (CK) activity in dried blood spot samples, followed by genetic confirmation of the diagnosis. Numerous pilot newborn screening projects for DMD have been conducted worldwide using various analytical approaches, including fluorescent and immunofluorescent CK assays, as well as molecular genetic methods for diagnostic confirmation. This paper provides an overview of the history and current status of DMD screening programs in different countries, as well as key ethical and psychological aspects of presymptomatic diagnosis.

Contribution:
Voronin S.V. — concept and design, editing;
Mukhortova P.A. — writing the text, editing;
Slabikova A.A. — concept and design, writing the text, editing;
Omelyanovskiy V.V. — editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: November 03, 2025
Accepted: December 01, 2025
Published: January 31, 2026

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