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Hyperekplexia and other startle syndromes
Journal of the Neurological Sciences ( IF 4.4 ) Pub Date : 2020-09-01 , DOI: 10.1016/j.jns.2020.117051
Arushi Gahlot Saini 1 , Sanjay Pandey 2
Affiliation  

Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. Hereditary hyperekplexia is a treatable neurogenetic disorder. In patients with a hyperactive startle response, the first step is to characterize the extent and associations of 'response.' Secondary or symptomatic causes are particularly important in children, as they provide useful clinical clues to an underlying neurodevelopmental or neurodegenerative disorders. Particular attention should be given to any neonate or infant with generalized or episodic stiffness, drug-refractory seizures, recurrent apnea, stimulus-sensitive behavioral states, or sudden infant death syndrome. Eliciting a non-habituating head-retraction reflex to repeated nose tapping should be a part of routine examination of all new-borns. Vigevano maneuver should be taught to all families and health-care workers as an emergency rescue measure. The onset of excessive startle after infancy should direct investigations for an acquired cause such as brainstem injury, antibodies against glycine receptors, and neurodegeneration. Finally, one should not forget to evaluate unexplained cases of abnormal gait and frequent falls in adults for underlying undiagnosed startle syndromes. Oral clonazepam is an effective therapy besides behavioral and safety interventions for hereditary cases. The outcomes in genetic cases are good overall.

中文翻译:

过度惊恐症和其他惊吓综合征

异常惊吓综合征分为惊恐过度、刺激诱发和神经精神惊吓综合征。Hyperekplexia 归因于遗传、特发性或症状性原因。遗传性多动症是一种可治疗的神经遗传性疾病。对于过度活跃的惊吓反应患者,第一步是表征“反应”的程度和关联。继发性或症状性原因在儿童中尤为重要,因为它们为潜在的神经发育或神经退行性疾病提供了有用的临床线索。应特别注意任何具有全身或间歇性僵硬、药物难治性癫痫发作、反复呼吸暂停、刺激敏感行为状态或婴儿猝死综合征的新生儿或婴儿。反复敲鼻引起非习惯性的头部后缩反射应该是所有新生儿常规检查的一部分。作为紧急救援措施,应向所有家庭和卫生保健工作者传授 Vigevano 操作。婴儿期后过度惊吓的发作应直接调查获得性原因,如脑干损伤、甘氨酸受体抗体和神经变性。最后,不应忘记评估不明原因的步态异常和成人频繁跌倒的病例,以了解潜在的未确诊的惊吓综合征。除了对遗传性病例进行行为和安全干预外,口服氯硝西泮是一种有效的治疗方法。遗传病例的结果总体上是好的。作为紧急救援措施,应向所有家庭和卫生保健工作者传授 Vigevano 操作。婴儿期后过度惊吓的发作应直接调查获得性原因,如脑干损伤、甘氨酸受体抗体和神经变性。最后,不应忘记评估不明原因的步态异常和成人频繁跌倒的病例,以了解潜在的未确诊的惊吓综合征。除了对遗传性病例进行行为和安全干预外,口服氯硝西泮是一种有效的治疗方法。遗传病例的结果总体上是好的。作为紧急救援措施,应向所有家庭和卫生保健工作者传授 Vigevano 操作。婴儿期后过度惊吓的发作应直接调查获得性原因,如脑干损伤、甘氨酸受体抗体和神经变性。最后,不应忘记评估不明原因的步态异常和成人频繁跌倒的病例,以了解潜在的未确诊的惊吓综合征。除了对遗传性病例进行行为和安全干预外,口服氯硝西泮是一种有效的治疗方法。遗传病例的结果总体上是好的。不应忘记评估不明原因的步态异常和成人频繁跌倒的病例,以发现潜在的未确诊的惊吓综合征。除了对遗传性病例进行行为和安全干预外,口服氯硝西泮是一种有效的治疗方法。遗传病例的结果总体上是好的。不应忘记评估不明原因的步态异常和成人频繁跌倒的病例,以发现潜在的未确诊的惊吓综合征。除了对遗传性病例进行行为和安全干预外,口服氯硝西泮是一种有效的治疗方法。遗传病例的结果总体上是好的。
更新日期:2020-09-01
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