Misdiagnosis of Surgical Conditions in ALS Patients: Analysis of a Single‐Center Experience and Review of Literature

Miguel Martins, Marta Gromicho, Miguel Oliveira Santos, Mamede de Carvalho
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Abstract

Background/Objectives: In amyotrophic lateral sclerosis (ALS) late or incorrect diagnosis significantly reduces the therapeutic window, while also increasing the risk of inappropriate interventions, with a negative impact on disease progression rate. We aim to identify and characterize the clinical profile of ALS patients followed in our center who underwent surgeries due to initial clinical presentation, and to review the literature. Methods: We conducted a prospective observational study of patients newly diagnosed with ALS at our center between 2021 and 2024. Patients were categorized into two groups: those who underwent surgical intervention (Surgery Group, n=17) and those who did not (non-Surgery Group, n=284). Variables analyzed included demographic characteristics, onset region, diagnostic delay, baseline disease progression rate (ΔFS), the first specialist consulted, upper motor neuron (UMN)/lower motor neuron (LMN) predominance, and presence of fasciculations at onset. English medical literature was reviewed. Results: Of 301 ALS patients, 17 (5.6%) underwent surgery due to initial symptoms. These patients had a significantly longer diagnostic delay (median 14.95 vs. 8.99 months, p=0.010) and all had spinal-onset ALS (p=0.014). No significant differences were found in sex (p=0.354), progression rate (p=0.453), UMN/LMN predominance (p=0.708), or fasciculations at onset (p=0.129). Conclusions: Surgical interventions in ALS, particularly in spinal-onset cases, remains a clinical concern. Surgeries may delay diagnosis and bypass early neurological assessment. We advocate for increased ALS awareness among non-neurologists and emphasize the necessity of neurological evaluation prior to elective spinal surgery in patients exhibiting progressive motor symptoms.
ALS患者手术条件的误诊:单中心经验分析和文献回顾
背景/目的:在肌萎缩性侧索硬化症(ALS)中,晚期或不正确的诊断显著减少了治疗窗口期,同时也增加了不适当干预的风险,对疾病进展率产生负面影响。我们的目的是识别和描述在我们中心随访的因初始临床表现而接受手术的ALS患者的临床特征,并回顾文献。方法:我们对2021年至2024年间在我们中心新诊断为ALS的患者进行了一项前瞻性观察研究。患者分为两组:接受手术干预的患者(手术组,n=17)和未接受手术干预的患者(非手术组,n=284)。分析的变量包括人口统计学特征、发病区域、诊断延迟、基线疾病进展率(ΔFS)、首次咨询的专家、上运动神经元(UMN)/下运动神经元(LMN)的优势以及发病时是否存在束状纹。回顾了英国医学文献。结果:301例ALS患者中,17例(5.6%)因首发症状接受手术治疗。这些患者的诊断延迟显著延长(中位14.95个月vs. 8.99个月,p=0.010),且均为脊髓性ALS (p=0.014)。性别(p=0.354)、进展率(p=0.453)、UMN/LMN优势(p=0.708)或发病时的束状花序(p=0.129)无显著差异。结论:手术干预ALS,特别是脊柱发病病例,仍然是临床关注的问题。手术可能会延迟诊断并绕过早期神经学评估。我们提倡提高非神经科医生对ALS的认识,并强调在出现进行性运动症状的患者进行选择性脊柱手术前进行神经学评估的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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