Neuromuscular disorders : NMD · 2024
275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9-11 February 2024, Hoofddorp, the Netherlands.
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Evoli Amelia, Palace Jacqueline, Spagni Gregorio, Cheli Marta, Ruiter Annabel, Verschuuren Jan, Maggi Lorenzo, 275th ENMC study group
Аннотация
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.