Maccora Simona, Vinciguerra Claudia, Messina Christian, Bevilacqua Liliana, Rini Nicasio, Barone Paolo, Brighina Filippo, Di Stefano Vincenzo
Department of Biomedicine, Neurosciences and Advanced Diagnostics (Bi.N.D.), University of Palermo, Via del Vespro 143, 90127, Palermo, Italy.
Neurology Unit, ARNAS Civico Di Cristina and Benfratelli Hospitals, 90127, Palermo, Italy.
J Neurol. 2025 May 30;272(6):433. doi: 10.1007/s00415-025-13170-5.
Seronegative myasthenia gravis (MG) accounts for ~ 10% of MG cases, often with mild to moderate symptoms. Diagnosis is frequently delayed or incorrect. Advanced serological, neurophysiological, and objective testing is essential to differentiate MG from similar conditions, avoid misdiagnosis, and ensure appropriate care.
We retrospectively analyzed 80 patients diagnosed with double-seronegative MG (dSNMG) from 2012 to March 2024 across 2 neuromuscular centers (Palermo and Salerno). Demographic, clinical, neurophysiological, and comorbidity data were reviewed to confirm or exclude MG after follow-up.
MG diagnosis was confirmed in 64% of cases (n = 51), while 36% (n = 29) received alternative diagnoses. Repetitive nerve stimulation (RNS) and single-fiber electromyography (SFEMG) were highly accurate in identifying MG. Among MG mimics, functional disorders were most frequent (45%), followed by oculopharyngeal muscular dystrophy, benign essential blepharospasm, Basedow-Graves ophthalmopathy, and refraction defects. MG mimics had longer diagnostic delays and a higher prevalence of psychiatric disorders. Confirmed MG cases were predominantly female, with a median onset age of 50 years; 67% had mild to moderate disease (MGFA class I-II). These patients required higher pyridostigmine doses and had common comorbidities, including hypertension, cardiovascular, and autoimmune diseases.
Diagnosing seronegative MG is challenging. In our cohort, neurophysiological testing played a key role in confirming MG, which presented mostly as a mild to moderate form responsive to symptomatic treatment. Notably, 45% of alternative diagnoses were functional disorders.
血清阴性重症肌无力（MG）约占MG病例的10%，通常症状为轻至中度。诊断常常延迟或有误。先进的血清学、神经生理学和客观检测对于鉴别MG与类似病症、避免误诊以及确保恰当治疗至关重要。
我们回顾性分析了2012年至2024年3月期间在2个神经肌肉中心（巴勒莫和萨勒诺）诊断为双血清阴性MG（dSNMG）的80例患者。回顾人口统计学、临床、神经生理学和合并症数据，以便在随访后确认或排除MG。
64%的病例（n = 51）确诊为MG，而36%（n = 29）得到了其他诊断。重复神经刺激（RNS）和单纤维肌电图（SFEMG）在识别MG方面具有高度准确性。在MG疑似病症中，功能障碍最为常见（45%），其次是眼咽型肌营养不良、良性原发性眼睑痉挛、巴塞多-格雷夫斯眼病和屈光不正。MG疑似病症的诊断延迟更长，精神障碍患病率更高。确诊的MG病例以女性为主，中位发病年龄为50岁；67%患有轻至中度疾病（MGFA I-II级）。这些患者需要更高剂量的溴吡斯的明，并且有常见的合并症，包括高血压、心血管疾病和自身免疫性疾病。
诊断血清阴性MG具有挑战性。在我们的队列中，神经生理学检测在确诊MG中起关键作用，MG大多表现为对对症治疗有反应的轻至中度形式。值得注意的是，45%的其他诊断为功能障碍。
