Objective: To describe the phenotypic heterogeneity of amyotrophic lateral sclerosis (ALS) in Tunisian patients, and to define the sociodemographic features, treatments, and survival rate with ALS. Methodology: The study included 210 patients with ALS diagnosed between 2003 and 2019 in The Neurology department, Razi Hospital Tunisia. ALS patients were phenotyped and followed until their death. Results: median age of ALS onset was 54.93 ± 14.08 years (men = 56.21 ± 12.58, women = 52.36 ± 16.49). The sex-ratio was 2.0 with obvious male predominance. Juvenile ALS form was found in 5.71% of our cohort and 94, 76% of the patients had the classic ALS form. In the latter, 76.3% had spinal onset whereas bulbar onset was seen in 20.1% of patients. Spinal onset was most frequent in Juvenile ALS patients. Approximately half of the ALS patients used Riluzole (58.5%). Median survival rate was 60 months (5 years). According to univariate analysis, the factors related to survival rate of ALS patient were: age at onset, diagnostic delay, site of onset, phenotype and treatment use. The multivariate analysis revealed that age at onset, gender, diagnostic delay, superior muscles atrophy, treatment use, consanguinity, cognitive signs, dysautonomia, and ALSFRS-R score were independent prognostic factors of survival among ALS patients. Conclusion: Our Tunisian cohort was characterized by a slower disease progression and a better prognosis. Juvenile ALS patients were more common. Initial ALSFRS-R scores were higher in our population. Age at onset of Bulbar ALS was younger. Our study highlights the possible presence of genetic and environmental factors that may influence the clinical phenotype of ALS in Tunisia.

中文翻译：

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突尼斯队列中的肌萎缩性侧索硬化症的流行病学和临床特征。

目的：描述突尼斯肌萎缩性侧索硬化症（ALS）的表型异质性，并定义ALS的社会人口统计学特征，治疗方法和生存率。方法：该研究纳入了2003年至2019年在突尼斯拉兹医院神经内科诊断为210例ALS的患者。对ALS患者进行表型分析并随访直至死亡。结果：ALS发病的中位年龄为54.93±14.08岁（男性= 56.21±12.58，女性= 52.36±16.49）。性别比为2.0，具有明显的男性优势。在我们的队列中，有5.71％的青少年为ALS，94、76％的患者为经典ALS。在后者中，有76.3％的患者有脊髓发作，而在20.1％的患者中发现延髓发作。脊髓性发作最常见于青少年ALS患者。大约一半的ALS患者使用了利鲁唑（58.5％）。中位生存期为60个月（5年）。根据单因素分析，与ALS患者生存率相关的因素包括：发病年龄，诊断延迟，发病部位，表型和治疗方法。多元分析表明，发病年龄，性别，诊断延迟，上肌萎缩，治疗方法，血缘，认知症状，自主神经功能障碍和ALSFRS-R评分是ALS患者生存的独立预后因素。结论：我们的突尼斯人队列以疾病进展较慢和预后较好为特征。青少年ALS患者更为常见。最初的ALSFRS-R分数在我们的人群中较高。Bulbar ALS发病的年龄较年轻。