Amelia Evoli , Jacqueline Palace , Gregorio Spagni , Marta Cheli , Annabel Ruiter , Jan Verschuuren , Lorenzo Maggi
{"title":"第 275 届 ENMC 国际研讨会:血清阴性重症肌无力:诊断和管理的最新范例,2024 年 2 月 9-11 日,荷兰 Hoofddorp。","authors":"Amelia Evoli , Jacqueline Palace , Gregorio Spagni , Marta Cheli , Annabel Ruiter , Jan Verschuuren , Lorenzo Maggi","doi":"10.1016/j.nmd.2024.104468","DOIUrl":null,"url":null,"abstract":"<div><div>The 275th ENMC workshop on the diagnosis and management of seronegative myasthenia gravis (SNMG) was held on February 9–11, 2024. The participants included experts in the field of adult and pediatric MG together with patient representatives. This workshop aimed to redefine SNMG in view of recent diagnostic and therapeutic updates and to identify patient unmet needs. The workshop has highlighted considerable challenges in the SNMG diagnostic work-up. To date, SNMG confirmation is often controversial, given the absence of specific diagnostic tests; no recommendations from international panels of experts are available in literature; myopathies, congenital myasthenic syndromes and functional disorders are the commonest misdiagnoses. Improving the disease diagnosis is crucial to avoid long delays in receiving appropriate treatment. To this purpose, a comprehensive diagnostic algorithm achieved consensus. Moreover, a remarkable variability in SNMG response to therapy and long-term prognosis has also been highlighted.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"44 ","pages":"Article 104468"},"PeriodicalIF":2.7000,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the Netherlands\",\"authors\":\"Amelia Evoli , Jacqueline Palace , Gregorio Spagni , Marta Cheli , Annabel Ruiter , Jan Verschuuren , Lorenzo Maggi\",\"doi\":\"10.1016/j.nmd.2024.104468\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>The 275th ENMC workshop on the diagnosis and management of seronegative myasthenia gravis (SNMG) was held on February 9–11, 2024. The participants included experts in the field of adult and pediatric MG together with patient representatives. This workshop aimed to redefine SNMG in view of recent diagnostic and therapeutic updates and to identify patient unmet needs. The workshop has highlighted considerable challenges in the SNMG diagnostic work-up. To date, SNMG confirmation is often controversial, given the absence of specific diagnostic tests; no recommendations from international panels of experts are available in literature; myopathies, congenital myasthenic syndromes and functional disorders are the commonest misdiagnoses. Improving the disease diagnosis is crucial to avoid long delays in receiving appropriate treatment. To this purpose, a comprehensive diagnostic algorithm achieved consensus. Moreover, a remarkable variability in SNMG response to therapy and long-term prognosis has also been highlighted.</div></div>\",\"PeriodicalId\":19135,\"journal\":{\"name\":\"Neuromuscular Disorders\",\"volume\":\"44 \",\"pages\":\"Article 104468\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-10-05\",\"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/S0960896624009647\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896624009647","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the Netherlands
The 275th ENMC workshop on the diagnosis and management of seronegative myasthenia gravis (SNMG) was held on February 9–11, 2024. The participants included experts in the field of adult and pediatric MG together with patient representatives. This workshop aimed to redefine SNMG in view of recent diagnostic and therapeutic updates and to identify patient unmet needs. The workshop has highlighted considerable challenges in the SNMG diagnostic work-up. To date, SNMG confirmation is often controversial, given the absence of specific diagnostic tests; no recommendations from international panels of experts are available in literature; myopathies, congenital myasthenic syndromes and functional disorders are the commonest misdiagnoses. Improving the disease diagnosis is crucial to avoid long delays in receiving appropriate treatment. To this purpose, a comprehensive diagnostic algorithm achieved consensus. Moreover, a remarkable variability in SNMG response to therapy and long-term prognosis has also been highlighted.
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.