物理治疗干预和基因治疗对肌肉萎缩症的作用、现状和未来展望:叙述性综述

Hafsa Abid, Saleh Shah, Ali Ahmed, Nazira Habib, Mah Bibi, Muhammad Ibrahim
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摘要

肌肉萎缩症是一组以进行性肌无力和变性为特征的遗传性疾病。随着大部分致病基因的确定,我们可以对疾病进行精确诊断,并提供针对亚型的预见性治疗。多年来,针对肌肉萎缩症出现了各种疗法,包括基因、细胞和药物疗法。这篇叙述性综述深入探讨了肌肉萎缩症疗法的最新进展,包括反义疗法、CRISPR、基因置换、细胞疗法、基于基因疗法的腺相关病毒载体(AAV)以及可改变病情的小分子化合物。这篇综述的意义尤为重大,因为它反映了支持性医学的进步,这些进步改变了治疗标准,从而全面改善了患者的生活质量、临床疗程和存活率。在本研究中,我们的重点是与这类疾病相关的临床表现、分子发病机制、诊断策略和治疗进展。本研究对 20 篇相关的英文文章、出版物、报告和在线资源进行了审查。
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Role of Physical Therapy Intervention and Gene Therapy on Muscular Dystrophies, Current Status and Future Perspectives: A Narrative Review
Muscular dystrophies form a collection of genetic disorders marked by progressive muscle weakness and degeneration. The identification of the majority of responsible genes has enabled precise diagnosis and subtype-specific anticipatory care. Over the years, various therapies, encompassing genetic, cellular, and pharmacological approaches, have emerged for muscular dystrophies. This narrative review thoroughly explores the ongoing developments in muscular dystrophy therapeutics, including antisense therapy, CRISPR, gene replacement, cell therapy, based gene therapy Adeno-associated viral vector (AAV), and disease-modifying small molecule compounds. The review is particularly significant as it reflects advancements in supportive medicine that have altered the standard of care, leading to an overall improvement in the quality of life, clinical course and survival for affected individuals. In this study, our focus is on the clinical manifestations, molecular pathogenesis, diagnostic strategies, and therapeutic advancements related to this group of conditions. The study involved the review of 20 pertinent English-language articles, publications, reports, and online resources. 
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