Duchenne muscular dystrophy - disease characterization and emergent genetic therapy - literature review

Abstract

Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and treating this condition. Review methods A thorough review was conducted using the PubMed database, Google Scholar, and relevant subject literature. The paper focused on presenting the latest knowledge available from research on etiology, the course of the disease, and new trends in the treatment of Duchenne muscular dystrophy. Summary Duchenne muscular dystrophy, despite being mainly associated with motoric difficulties, is connected with abnormalities in other areas, even cognitive function. Thanks to progress in genetic engineering, new opportunities have emerged in DMD treatment, including the application of several genetic therapies: adeno-associated virus (AAV) vectors, CRISPR-Cas9, termination codon read-through, and exon skipping agents. Conclusions Newly emerging medications, acting at the genetic level through various mechanisms, provide hope for further advances in Duchenne muscular dystrophy treatment. Although the application of gene therapy showed a noticeable effect, it was still not satisfactory. At this moment, the most reasonable approach is combined therapy with glucocorticosteroids, interdisciplinary care, and the introduction of a selected type of gene therapy.

Keywords

• gene therapy
• Duchenne muscular dystrophy
• Duchenne muscular dystrophy therapy