Amanda X. Y. Chin, Zhi Xuan Quak, Yee Cheun Chan, Amy M. L. Quek, Kay W. P. Ng
{"title":"面阔肱肌营养不良症 (FSHD) 的最新进展","authors":"Amanda X. Y. Chin, Zhi Xuan Quak, Yee Cheun Chan, Amy M. L. Quek, Kay W. P. Ng","doi":"10.1007/s11940-024-00790-x","DOIUrl":null,"url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of review</h3><p>This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.</p><h3 data-test=\"abstract-sub-heading\">Recent findings</h3><p>New breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through three main avenues: small molecules, antisense oligonucleotide therapeutics and CRISPR-based approaches. This review discusses these strategies further. Presently, all prospective targeted therapies are in the pre-clinical phase, except for losmapimod, which is currently undergoing a phase 3 clinical trial.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Given the absence of approved disease-modifying treatments for FSHD, the primary approach for management currently involves multidisciplinary supportive measures which are limited. Recent developments in the form of targeted therapies and strategies for the definitive treatment of FSHD indicate a promising era.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"49 1","pages":""},"PeriodicalIF":2.0000,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)\",\"authors\":\"Amanda X. Y. Chin, Zhi Xuan Quak, Yee Cheun Chan, Amy M. L. Quek, Kay W. P. Ng\",\"doi\":\"10.1007/s11940-024-00790-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<h3 data-test=\\\"abstract-sub-heading\\\">Purpose of review</h3><p>This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.</p><h3 data-test=\\\"abstract-sub-heading\\\">Recent findings</h3><p>New breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through three main avenues: small molecules, antisense oligonucleotide therapeutics and CRISPR-based approaches. This review discusses these strategies further. Presently, all prospective targeted therapies are in the pre-clinical phase, except for losmapimod, which is currently undergoing a phase 3 clinical trial.</p><h3 data-test=\\\"abstract-sub-heading\\\">Summary</h3><p>Given the absence of approved disease-modifying treatments for FSHD, the primary approach for management currently involves multidisciplinary supportive measures which are limited. Recent developments in the form of targeted therapies and strategies for the definitive treatment of FSHD indicate a promising era.</p>\",\"PeriodicalId\":10975,\"journal\":{\"name\":\"Current Treatment Options in Neurology\",\"volume\":\"49 1\",\"pages\":\"\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-04-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Treatment Options in Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s11940-024-00790-x\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Treatment Options in Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11940-024-00790-x","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)
Purpose of review
This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.
Recent findings
New breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through three main avenues: small molecules, antisense oligonucleotide therapeutics and CRISPR-based approaches. This review discusses these strategies further. Presently, all prospective targeted therapies are in the pre-clinical phase, except for losmapimod, which is currently undergoing a phase 3 clinical trial.
Summary
Given the absence of approved disease-modifying treatments for FSHD, the primary approach for management currently involves multidisciplinary supportive measures which are limited. Recent developments in the form of targeted therapies and strategies for the definitive treatment of FSHD indicate a promising era.
期刊介绍：
This journal aims to review the most important, recently published treatment option advances in the field of neurology. By presenting clear, insightful, balanced contributions by international experts, the journal intends to facilitate worldwide approaches to the treatment of neurologic conditions.
We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as epilepsy, headache, neurologic ophthalmology and otology, neuromuscular disorders, psychiatric manifestations of neurologic disease, and sleep disorders. Section Editors select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known neurologists, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
