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Keywords

Duchenne Muscular Dystrophy
dystrophin gene
muscle weakness
muscular dystrophy
exon skipping therapy

How to Cite

CLINICAL FEATURES, DIAGNOSIS, AND MANAGEMENT OF DUCHENNE MUSCULAR DYSTROPHY. (2026). Yangi O’zbekistonda Tabiiy Va Ijtimoiy-Gumanitar Fanlar Respublika Ilmiy Amaliy Konferensiyasi, 4(5), 92-97. https://universalpublishings.com/index.php/gumanitar/article/view/19644

Abstract

Duchenne Muscular Dystrophy (DMD) is the most common and severe form of inherited muscular dystrophy, characterized by progressive muscle degeneration and weakness resulting from mutations in the dystrophin gene. The disease primarily affects boys and leads to significant physical disability, cardiopulmonary complications, and reduced life expectancy. Recent advances in genetic testing, early diagnostic techniques, and novel therapeutic approaches have improved disease management and patient outcomes. This review highlights the clinical manifestations, diagnostic methods, and current treatment strategies for Duchenne Muscular Dystrophy. Particular attention is given to emerging genetic therapies and multidisciplinary care approaches that aim to enhance quality of life and prolong survival.

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References

1. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy: Part 1. Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal management. The Lancet Neurology. 2018;17(3):251–267.

2. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy: Part 2. Respiratory, cardiac, bone health, and orthopedic management. The Lancet Neurology. 2018;17(4):347–361.

3. Mercuri E, Bonnemann CG, Muntoni F. Muscular dystrophies. The Lancet. 2019;394(10213):2025–2038.

4. Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nature Reviews Disease Primers. 2021;7(1):13.

5. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51(6):919–928.

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