Abstract

DUCHENNE MUSCULAR DYSTROPHY: A REVIEW

Diksha* and Rahul Sharma

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Abstract

Duchenne muscular dystrophy (DMD) is a muscle illness caused by a mutation in the dystrophin, a largest human gene that code for the cytoskeletal protein which is required for maintaining the structural and functional integrity of the muscles. It has an X-linked recessive inheritance pattern. DMD mainly affects boys (1 in every 5000), while female carriers can be symptomatic in some situations. The condition typically causes deterioration in cardiac and pulmonary functions, resulting in the patient’s mortality at a young age. A multitude of medicines are being developed all the time to manage the disease complications and extend the lives of sufferers. Use of Steroids in DMD decreases the mortality rate in patients and helps in improving strength, muscle function, and overall quality of life. The cornerstone of genetically modified therapeutics is the restoration of dystrophin gene expression. Exon skipping, the use of recombinant gene associated virus to produce mini-dystrophin, and surrogate gene transfer are all possible treatments for this condition. Stem cells transplantation techniques exhibit a promising treatment option in the future. Despite the hurdles and concerns surrounding stem cell therapy, some clinical trials have shown that patients who have received such treatments have increased muscle strength. The treatment can help to fix a genetic mutation in the DMD gene and alleviate symptoms. In this review article current treatment therapies and their mechanism in reducing DMD symptoms are discussed.

Keywords: Duchenne muscular dystrophy, Therapy, Genetic engineering, Steroids, Stem Cells.