Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Serviço de Neurologia, Departamento de Neurociências e Saúde Mental, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Lisboa, Portugal, and.
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):383-388. doi: 10.1080/21678421.2022.2164205. Epub 2023 Jan 4.
The flail-arm syndrome (FAS), one of the Amyotrophic lateral sclerosis (ALS) phenotypes, is characterized by slow progression and predominantly lower motor neuron (LMN) involvement with proximal upper limb (UL) weakness. We aim to characterize the clinical features, progression and survival of FAS associated with distal or proximal onset and presence or absence of upper motor neuron signs (UMN) signs at diagnosis. Data from 704 ALS patients was analyzed. Of the 190 patients with UL onset; 134 were excluded as not respecting the published criteria for FAS. The included patients were divided into four groups according to distal/proximal onset and presence/absence of UMN signs. 56 FAS patients (8% of the population), median age at onset 59.9 years (Q1/Q3, 50.3-68.1), 75% men, were studied. Distal onset with UMN signs occurred in 37.5%, distal onset without UMN signs in 28.6%, proximal onset with UMN signs in 8.9% and proximal onset without UMN signs in 25%. Age of onset, sex, fasciculations at onset, diagnostic delay, progression rate, time to respiratory involvement and survival were similar among the four groups. Sex ratio was more balanced in patients with UMN signs ( = 0.032) and survival was shorter (69.5 months, 95% CI: 55.4-110.4 vs 152.6 months, 95% CI: 69.0-177.3; = 0.035). The Cox regression identified rate of progression (p < 0.001) and UMN signs (p = 0.003) as independent predictors of shorter survival. Distal or proximal onset had no influence on clinical characteristics and prognosis but UMN signs at diagnosis are a negative prognostic predictor.
摆臂综合征（FAS）是肌萎缩侧索硬化症（ALS）的表型之一，其特征为进展缓慢，主要累及下运动神经元（LMN），上肢近端（UL）无力。我们旨在描述 FAS 的临床特征、进展和生存情况，这些特征与诊断时远端或近端起始、是否存在上运动神经元（UMN）体征有关。分析了 704 例 ALS 患者的数据。在 190 例 UL 起病的患者中；134 例因不符合发表的 FAS 标准而被排除。纳入的患者根据远端/近端起始和是否存在 UMN 体征分为四组。共纳入 56 例 FAS 患者（占人群的 8%），发病中位年龄 59.9 岁（Q1/Q3，50.3-68.1），75%为男性。伴有 UMN 体征的远端起病占 37.5%，无 UMN 体征的远端起病占 28.6%，伴有 UMN 体征的近端起病占 8.9%，无 UMN 体征的近端起病占 25%。四组患者的发病年龄、性别、起病时肌束震颤、诊断延迟、进展速度、出现呼吸功能障碍的时间和生存时间均相似。UMN 体征患者的性别比例更为均衡（=0.032），且生存时间更短（69.5 个月，95%CI：55.4-110.4 与 152.6 个月，95%CI：69.0-177.3；=0.035）。Cox 回归分析发现进展速度（p<0.001）和 UMN 体征（p=0.003）是生存时间更短的独立预测因素。远端或近端起病对临床特征和预后无影响，但诊断时的 UMN 体征是预后不良的预测因素。
