AI Article Synopsis
- This article reviews essential concepts of genetic treatment for neuromuscular disorders and highlights the critical role of genetic testing in gene therapy applications.
- Gene therapies are now available for certain conditions, with innovations like exon-skipping for Duchenne muscular dystrophy and promising results from microdystrophin gene replacement nearing trial completion.
- Diagnosing muscle disorders through genetic testing is vital for treatment guidance, as different genetic conditions require tailored approaches for effective therapy.
Article Abstract
Purpose Of Review: This article discusses the foundational concepts of genetic treatment strategies employed in neuromuscular medicine, as well as the importance of genetic testing as a requirement for applying gene-based therapy.
Recent Findings: Gene therapies have become a reality for several neuromuscular disorders. Exon-skipping and (in Europe) ribosomal read-through approaches are currently available to a subset of patients with Duchenne muscular dystrophy. Microdystrophin gene replacement has shown promise and is nearing the final stages of clinical trials. Numerous gene-based therapies for other muscular dystrophies and congenital myopathies are progressing toward approval as well.
Summary: Muscular dystrophies and congenital myopathies are a heterogenous group of hereditary muscle disorders. Confirming a diagnosis with genetic testing is not only critical for guiding management, but also an actual prerequisite for current and future gene therapies. Recessive loss-of-function or dominant haploinsufficiency disorders may be treated with gene replacement strategies, whereas dominant negative and toxic gain-of-function disorders are best addressed with a variety of knockdown approaches. It is important to recognize that many therapeutics are mutation specific and will only benefit a subset of individuals with a specific disease.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496150 | PMC |
| http://dx.doi.org/10.1212/CON.0000000000001203 | DOI Listing |
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