Systemic Review of Clinical Presentation of Duchenne Muscular Dystrophy Patients: A Focused Case Series from King Saud Medical City, Saudi Arabia

Duchenne Muscular Dystrophy (DMD) is one of the most common and devastating genetic disorders affecting children, predominantly boys. [1] is an X-linked recessive condition caused by mutations in the dystrophin gene, leading to the absence or significant reduction of dystrophin, a protein essential for maintaining muscle cell integrity. [2]This deficiency results in progressive muscle degeneration, loss of motor function, and eventual multisystem involvement. [3]Globally, the incidence of DMD is estimated at approximately 1 in 3,500 male live births. [4]Despite advances in genetic and molecular biology, the disease remains incurable, with most patients relying on

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Publication Details

Journal
ARC Journal of Pediatrics
Published
2025-01-01
DOI
https://doi.org/10.20431/2455-5711.1004001
Primary Topic
Prosthetics and Rehabilitation Robotics
Type
article
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article

Systemic Review of Clinical Presentation of Duchenne Muscular Dystrophy Patients: A Focused Case Series from King Saud Medical City, Saudi Arabia

A. Amal, Huda Khaleel, Meshari Almadhi
ARC Journal of Pediatrics
Prosthetics and Rehabilitation Robotics
article

Systemic Review of Clinical Presentation of Duchenne Muscular Dystrophy Patients: A Focused Case Series from King Saud Medical City, Saudi Arabia

A. Amal, Huda Khaleel, Meshari Almadhi
article en

Abstract

Duchenne Muscular Dystrophy (DMD) is one of the most common and devastating genetic disorders affecting children, predominantly boys. [1] is an X-linked recessive condition caused by mutations in the dystrophin gene, leading to the absence or significant reduction of dystrophin, a protein essential for maintaining muscle cell integrity. [2]This deficiency results in progressive muscle degeneration, loss of motor function, and eventual multisystem involvement. [3]Globally, the incidence of DMD is estimated at approximately 1 in 3,500 male live births. [4]Despite advances in genetic and molecular biology, the disease remains incurable, with most patients relying on

ARC Journal of PediatricsVol. 10(4)
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Prosthetics and Rehabilitation Robotics
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