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Angelini. J Transl Genet Genom 2024;8:244-8 Journal of Translational
DOI: 10.20517/jtgg.2024.29
Genetics and Genomics

Editorial Open Access

Duchenne muscular dystrophy: diagnosis and
perspective of treatment

Corrado Angelini

Department of Neurosciences, University of Padova, Campus Pietro d’Abano, Padova 35126, Italy.
Correspondence to: Prof. Corrado Angelini, Department of Neurosciences, University of Padova, Campus Pietro d’Abano, via
Orus 2, Padova 35126, Italy. E-mail: corrado.angelini@unipd.it

How to cite this article: Angelini C. Duchenne muscular dystrophy: diagnosis and perspective of treatment. J Transl Genet Genom
2024;8:244-8. https://dx.doi.org/10.20517/jtgg.2024.29
Received: 19 Jun 2024 Accepted: 11 Jul 2024 Published: 16 Jul 2024

Academic Editor: Andrea L. Gropman Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Duchenne Muscular Dystrophy (DMD) is an X-linked genetic dystrophy characterized by progressive
myofiber degeneration and weakness, as well as cardiac involvement including dilated cardiomyopathy and
heart dilatation. As of 2024, DMD remains incurable, but significant progress has been made since the
discovery of the dystrophin gene in 1986 by Monaco and the dystrophin protein by Eric Hoffmann. Clinical
trials are crucial for advancing the understanding and treatment of DMD. This Special Issue focuses on
advancements in Dystrophinopathies research. I would like to take this opportunity to invite you to submit
your outstanding research achievements to the Special Issue “Genetic Diagnosis and Treatment of
Duchenne Muscular Dystrophy” in Journal of Translational Genetics and Genomics (JTGG, Online ISSN:
2578-5281, indexed by Scopus, ESCI), an international open-access journal that conducts rigorous peer-
review. This article highlights key developments in diagnosis, evolving treatments, and ongoing clinical
trials.

The diagnosis of DMD typically involves a comprehensive clinical evaluation regarding clinical signs, gait
initiation, genetic testing, and muscle biopsy, which mainly involves testing for creatine kinase (CK),
hemopexin, myoglobin, Southern blot analysis, immunohistochemistry, multiplex PCR, multiplex ligation-
dependent probe amplification, Sanger DNA sequencing, and next-generation DNA sequencing. Genetic
testing confirms the diagnosis by identifying mutations in the dystrophin gene. Additionally, Western
blotting and immunohistochemistry aid in diagnosing and differentiating between DMD, intermediate and

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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