Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle. Patients with FSHD are usually accompanied by degenerative changes in the face, shoulders, and upper mu...
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MDPI AG
2024-09-01
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| author | Qi Xie Guangmei Ma Yafeng Song |
| author_facet | Qi Xie Guangmei Ma Yafeng Song |
| author_sort | Qi Xie |
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| description | Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle. Patients with FSHD are usually accompanied by degenerative changes in the face, shoulders, and upper muscles, gradually accumulating in the lower limb muscles. The severity of patients is quite different, and most patients end up using wheelchairs and losing their self-care ability. At present, the exploration of treatment strategies for FSHD has shifted from relieving symptoms to gene therapy, which brings hope to the future of patients, but the current gene therapy is only in the clinical trial stage. Here, we conducted a comprehensive search of the relevant literature using the keywords FSHD, DUX4, and gene therapy methods including ASOs, CRISPR, and RNAi in the PubMed and Web of Science databases. We discussed the current advancements in treatment strategies for FSHD, as well as ongoing preclinical and clinical trials related to FSHD. Additionally, we evaluated the advantages and limitations of various gene therapy approaches targeting DUX4 aimed at correcting the underlying genetic defect. |
| format | Article |
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| institution | OA Journals |
| issn | 2076-3417 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | MDPI AG |
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| series | Applied Sciences |
| spelling | doaj-art-e1bdcdcc9bef4f54a7d1db3d8e98fd2f2025-08-20T01:55:58ZengMDPI AGApplied Sciences2076-34172024-09-011418822210.3390/app14188222Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current LiteratureQi Xie0Guangmei Ma1Yafeng Song2School of Sports Science, Beijing Sport University, Beijing 100084, ChinaDepartment of Physical Education Teaching and Research, Xinjiang University, Wulumuqi 830046, ChinaChina Institute of Sport and Health Science, Beijing Sport University, Beijing 100084, ChinaFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle. Patients with FSHD are usually accompanied by degenerative changes in the face, shoulders, and upper muscles, gradually accumulating in the lower limb muscles. The severity of patients is quite different, and most patients end up using wheelchairs and losing their self-care ability. At present, the exploration of treatment strategies for FSHD has shifted from relieving symptoms to gene therapy, which brings hope to the future of patients, but the current gene therapy is only in the clinical trial stage. Here, we conducted a comprehensive search of the relevant literature using the keywords FSHD, DUX4, and gene therapy methods including ASOs, CRISPR, and RNAi in the PubMed and Web of Science databases. We discussed the current advancements in treatment strategies for FSHD, as well as ongoing preclinical and clinical trials related to FSHD. Additionally, we evaluated the advantages and limitations of various gene therapy approaches targeting DUX4 aimed at correcting the underlying genetic defect.https://www.mdpi.com/2076-3417/14/18/8222facioscapulohumeral muscular dystrophygenetic treatmentoligonucleotidesCrisprDUX4 |
| spellingShingle | Qi Xie Guangmei Ma Yafeng Song Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature Applied Sciences facioscapulohumeral muscular dystrophy genetic treatment oligonucleotides Crispr DUX4 |
| title | Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature |
| title_full | Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature |
| title_fullStr | Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature |
| title_full_unstemmed | Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature |
| title_short | Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature |
| title_sort | therapeutic strategy and clinical path of facioscapulohumeral muscular dystrophy review of the current literature |
| topic | facioscapulohumeral muscular dystrophy genetic treatment oligonucleotides Crispr DUX4 |
| url | https://www.mdpi.com/2076-3417/14/18/8222 |
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