1型发作性睡病

定义

1型发作性睡病是一种因下视丘分泌素（食欲素）信号缺乏导致的过度嗜睡症。除每天无法抑制的睡眠需求或白天进入睡眠状态外，1 型发作性睡病还伴有快速眼动睡眠分离症状，其中最重要的是 “猝倒”。猝倒是一种在清醒状态下突然出现的无法控制的肌肉张力丧失，通常由兴奋或大笑等强烈情绪引发。虽然猝倒是 1 型发作性睡病的典型症状，但可能在嗜睡发作后数年才出现。在这种情况下，可根据脑脊液（CSF）中下视丘分泌素水平< 110皮克/毫升来诊断 1 型嗜睡症。此外，还可能出现睡眠瘫痪、催眠或催眠幻觉。这种失调不是由神经系统疾病或其他疾病引起。 注：明确诊断需要每天都有无法抑制的睡眠需求或白天进入睡眠状态，同时具备以下任一情况：a）发作性睡病特有的猝倒和多次小睡潜伏期试验/多导睡眠监测（MSLT/PSG）结果；或 b）脑脊液下视丘分泌素缺乏症。

Type 1 narcolepsy is a disorder of excessive sleepiness due to a deficiency of hypothalamic hypocretin (orexin) signaling. In addition to daily periods of irrepressible need to sleep or daytime lapses into sleep, type 1 narcolepsy is characterised by symptoms of REM sleep dissociation, most importantly cataplexy. Cataplexy is a sudden and uncontrollable loss of muscle tone arising during wakefulness that is typically triggered by a strong emotion, such as excitement or laughter. Although cataplexy is a pathognomonic symptom of type 1 narcolepsy, it may not manifest until years following onset of the sleepiness. In such cases, a diagnosis of narcolepsy, type 1 may be made based on cerebrospinal fluid (CSF)-hypocretin levels < 110 picograms per milliliter. Episodes of sleep paralysis and hypnagogic or hypnopompic hallucinations may also be present. The disorder is not attributable to a disease of the nervous system or other medical condition. Note: A definitive diagnosis requires daily periods of irrepressible need to sleep or daytime lapses into sleep plus either: a) cataplexy and multiple sleep latency test/polysomnography (MSLT/PSG) findings characteristic of narcolepsy; or b) demonstrated CSF hypocretin deficiency.

索引词 可用于检索该条目的同义词与别名

• 1型发作性睡病
• 伴猝倒和/或下丘脑分泌素缺乏的发作性睡病
• 猝倒
• Gélineau综合征
• 发作性睡病1型