遗传综合征与基因治疗杂志
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Duchenne Muscular Dystrophy: A Review on Systemic Paradigm Approaching Diagnosis to Therapy

Srabaita Roy, Ranjit Shaw, Audditiya Bandopadhyay, Sukanya Samaddar, Sukanya Samanta, Ritwija Maity, Puja Chatterjee, Ankita Das, Suchismita Bhaumik, Gyaneshwer Chaubey

Duchenne Muscular Dystrophy (DMD) is a severe congenital disorder caused by DMD gene mutations, which results in muscular degeneration and movement difficulties, eventually leading to death. Whereas its less severe form, Becker Muscular Dystrophy (BMD), also caused by the DMD gene mutations, shows slower patterns of progression with much later onset. This review discusses the various mutations resulting in DMD, its genetic basis, the diagnostic tools for performing a genetic diagnosis of having DMD and also advocates the necessity of having genetic therapies and employing nutraceuticals for therapy in the context of this disease. Furthermore, we have also highlighted several treatment options, such as antibacterial drugs, AON-mediated exon skipping therapy, Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR-Cas9) gene-editing technology, nutraceuticals and other significant approaches that have resulted in more promising and durable cures. However, these methods are still under clinical trials. As a whole, our review presents a holistic view of this muscle malady.