Background

Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.

Methods

We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia.

Results

A total of 22 Saudi patients (11 males, 11 females) from 20 unrelated families who had hereditary hyperekplexia were included. Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. The combined carrier frequency of hereditary hyperekplexia for the encountered founder mutations in the Saudi population is 10.9 per 10,000, which translates to a minimum disease burden of 13 patients per 1,000,000.

Conclusion

Our study provides comprehensive epidemiologic information, prevalence figures, and clinical characteristics of a large cohort of patients with hereditary hyperekplexia.

中文翻译：

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沙特阿拉伯的遗传性 Hyperekplexia

背景

Hyperekplexia 是一种罕见的疾病，其特征是对意外感觉刺激的过度惊吓反应、反复呼吸暂停和僵硬。在血缘关系高的人群中，关于这种疾病的研究很少发表。

方法

我们使用发送到沙特阿拉伯九家主要转诊医院的标准问卷，回顾性地审查了遗传证实的遗传性过度神经症的沙特阿拉伯患者。

结果

共有来自 20 个无关家庭的 22 名沙特患者（11 名男性，11 名女性）患有遗传性过敏症。根据分子学研究，它们被分为不同的亚型：SLC6A5变异（12 例，54.5%）、GLRB变异（7 例，31.8%）和GLRA1变异（3 例，13.7%）。对于各自的因果变异，所有患者都是纯合子。在沙特人群中遇到的创始人突变的遗传性hyperekplexia的组合携带频率为每10,000人中有10.9人，这意味着每1,000,000人中有13名患者的最低疾病负担。

结论

我们的研究提供了一大群遗传性过敏症患者的综合流行病学信息、患病率数据和临床特征。