282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.106212

M.A. Iammarino , J. Alonso-Pérez , T. Stojkovic , E. Pegoraro , L. Lowes , J. Díaz-Manera , 282nd workshop study group

{"title":"282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands","authors":"M.A. Iammarino , J. Alonso-Pérez , T. Stojkovic , E. Pegoraro , L. Lowes , J. Díaz-Manera , 282nd workshop study group","doi":"10.1016/j.nmd.2025.106212","DOIUrl":null,"url":null,"abstract":"<div><div>Sarcoglycanopathies are rare autosomal recessive limb-girdle muscular dystrophies (LGMD R3–R6) caused by pathogenic variants in SGCA, SGCB, SGCG, or SGCD genes. They present predominantly in childhood with progressive proximal muscle weakness, frequently leading to loss of ambulation in adolescence or early adulthood, and may involve cardiac and respiratory complications. Despite their severity and multisystem impact, no internationally agreed standards of care (SoC) currently exist, contributing to diagnostic delays, inconsistent management, and inequitable access to multidisciplinary expertise. The 282nd ENMC International Workshop (Amsterdam, November 2024) convened 29 global stakeholders including clinicians, researchers, industry, and patient representatives to harmonize literature evidence with international clinical experience. Key outputs included: consensus on the clinical spectrum and diagnostic algorithm (with and without genetic testing); recommendations for multidisciplinary management covering neurology, cardiology, respiratory care, rehabilitation, and psychosocial support; and identification of outcome measures for clinical monitoring and trials. Natural history data were reviewed to define prognostic factors, and emerging therapeutic avenues including gene therapy, small-molecule correctors, and antifibrotic strategies were discussed. The workshop concluded with a mandate to develop and disseminate comprehensive, accessible SoC guidelines tailored to sarcoglycanopathies to improve care delivery and readiness for forthcoming disease-modifying therapies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"54 ","pages":"Article 106212"},"PeriodicalIF":2.8000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896625009393","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Sarcoglycanopathies are rare autosomal recessive limb-girdle muscular dystrophies (LGMD R3–R6) caused by pathogenic variants in SGCA, SGCB, SGCG, or SGCD genes. They present predominantly in childhood with progressive proximal muscle weakness, frequently leading to loss of ambulation in adolescence or early adulthood, and may involve cardiac and respiratory complications. Despite their severity and multisystem impact, no internationally agreed standards of care (SoC) currently exist, contributing to diagnostic delays, inconsistent management, and inequitable access to multidisciplinary expertise. The 282nd ENMC International Workshop (Amsterdam, November 2024) convened 29 global stakeholders including clinicians, researchers, industry, and patient representatives to harmonize literature evidence with international clinical experience. Key outputs included: consensus on the clinical spectrum and diagnostic algorithm (with and without genetic testing); recommendations for multidisciplinary management covering neurology, cardiology, respiratory care, rehabilitation, and psychosocial support; and identification of outcome measures for clinical monitoring and trials. Natural history data were reviewed to define prognostic factors, and emerging therapeutic avenues including gene therapy, small-molecule correctors, and antifibrotic strategies were discussed. The workshop concluded with a mandate to develop and disseminate comprehensive, accessible SoC guidelines tailored to sarcoglycanopathies to improve care delivery and readiness for forthcoming disease-modifying therapies.

查看原文本刊更多论文

第282届ENMC国际研讨会-肌糖病变的诊断和护理标准。2024年11月8日至10日，荷兰阿姆斯特丹

肌糖病是一种罕见的常染色体隐性肢体肌营养不良症（LGMD R3-R6），由SGCA、SGCB、SGCG或SGCD基因的致病变异引起。它们主要出现在儿童期，伴有进行性近端肌肉无力，经常导致青春期或成年早期行动能力丧失，并可能涉及心脏和呼吸系统并发症。尽管其严重程度和多系统影响，但目前没有国际商定的护理标准（SoC），导致诊断延误，管理不一致，以及获得多学科专业知识的不公平。第282届ENMC国际研讨会（阿姆斯特丹，2024年11月）召集了29名全球利益相关者，包括临床医生、研究人员、行业和患者代表，以协调文献证据和国际临床经验。主要产出包括：对临床谱和诊断算法（有或没有基因检测）达成共识；多学科管理建议，包括神经病学、心脏病学、呼吸保健、康复和社会心理支持；确定临床监测和试验的结果措施。回顾了自然历史数据以确定预后因素，并讨论了新兴的治疗途径，包括基因治疗，小分子校正剂和抗纤维化策略。研讨会结束时的任务是制定和传播针对肌糖病变的全面、可获取的SoC指南，以改善护理提供和对即将到来的疾病修饰疗法的准备。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.