Soliman Radwa, Onbool Enass, Omran Kareem, Fahmy Nagia
Neuromuscular Unit, Neurology and Psychiatry Department, Faculty of Medicine Ain Shams University, Cairo, 11566, Egypt.
Neurol Sci. 2025 Mar;46(3):1225-1236. doi: 10.1007/s10072-024-07760-w. Epub 2024 Sep 30.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with progressive loss of motor neurons. It is a growing and underestimated disease, prompting this epidemiological study to describe the characteristics of ALS in Egyptian patients.
This is a prospective hospital based study. ALS patients were recruited consecutively from Neuromuscular Unit in Ain Shams university Hospital from December 2018 to June 2023. Demographic data and disease related parameters were recorded.
203 ALS patients had a mean age of onset equal 39 years and an inter quartile range IQR of (28.00-51.00). 76% of the cases were spinal onset ALS. Median disease duration was 2 years with IQR of (1-4 years); male to female ratio was 2.5:1; 18% of patients were familial ALS (FALS), while 19% were Juvenile ALS (JALS). Median diagnostic delay was 12 ± (6-36) months. Median Amyotrophic Lateral Sclerosis Functional Rating Scale Revised scores (ALSFRS-R) at presentation was 34.5 IQR of (26.00-40.00). Also, the mean rate of disease progression ALSFRS-R decline [points/month] was 0.76 ± 0.51.
Our cohort was characterized by a younger age of onset, male predominance, more familial cases, within average Initial ALSFRS-R scores as well as diagnostic delay. Juvenile ALS patients were much more common in our population. These findings suggest an influential presence of genetic and epigenetic factors affecting the clinical phenotype of Egyptian ALS patients.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，与运动神经元的进行性丧失有关。它是一种发病率不断上升但被低估的疾病，促使这项流行病学研究来描述埃及患者中ALS的特征。
这是一项基于医院的前瞻性研究。2018年12月至2023年6月期间，从艾因夏姆斯大学医院神经肌肉科连续招募ALS患者。记录人口统计学数据和疾病相关参数。
203例ALS患者的平均发病年龄为39岁，四分位间距（IQR）为（28.00 - 51.00）。76%的病例为脊髓型ALS。疾病持续时间中位数为2年，IQR为（1 - 4年）；男女比例为2.5:1；18%的患者为家族性ALS（FALS），而19%为青少年型ALS（JALS）。诊断延迟中位数为12 ±（6 - 36）个月。就诊时肌萎缩侧索硬化症功能评定量表修订版（ALSFRS - R）得分中位数为34.5，IQR为（26.00 - 40.00）。此外，疾病进展的平均速率ALSFRS - R下降[每月点数]为0.76 ± 0.51。
我们的队列具有发病年龄较轻、男性占主导、家族性病例较多、初始ALSFRS - R评分平均以及诊断延迟等特点。青少年型ALS患者在我们的人群中更为常见。这些发现表明遗传和表观遗传因素对埃及ALS患者的临床表型有显著影响。
