Department of Neurology, Donders Institute for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Sleep Med. 2011 Jan;12(1):12-8. doi: 10.1016/j.sleep.2010.05.010. Epub 2010 Dec 8.
Narcolepsy is often not recognized or accurately diagnosed. This may be due to the fact that cataplexy, a core symptom which is virtually 100% specific, can-in practice-only be diagnosed based on the patient's history. However, the current definition of cataplexy is not very precise and the common distinction between "typical" and "atypical" cataplexy is not well codified.
We aimed to provide a detailed description of the phenotypic variability of cataplexy. We included 109 patients with a definite history of cataplexy and a proven hypocretin-1 deficiency. The questionnaire contained 37 items to broadly cover the clinical aspects of cataplexy, including triggers, pattern and duration of muscle weakness, associated aspects such as sensory phenomena, and limitations in daily life due to cataplexy.
"Laughing" only listed in place 11th of most frequent triggers. "Laughing excitedly" was much more potent, showing that a certain intensity of the emotion is important for a "cataplectogenic" effect. Anger was the highest ranking "non-humorous" trigger, followed by "unexpectedly meeting someone well known." About 60% of patients also had spontaneous cataplectic attacks. Forty-five percent of patients experienced both partial and complete attacks and 30% only partial cataplexy. Fifteen percent of complete attacks were reported to last longer than 2 min. An abrupt return of muscle function was an important feature. The jaw and the face were most often involved in partial attacks, even more than the knee or the leg.
Cataplexy presents with a large phenotypical diversity, so the current "typical" versus "atypical" distinction may be difficult to hold. We propose that grading cataplexy with different levels of diagnostic confidence may be more useful.
发作性睡病常未被识别或准确诊断。这可能是因为作为核心症状的猝倒，其实几乎有 100%的特异性，但在实践中只能根据患者的病史进行诊断。然而，目前猝倒的定义并不十分精确，“典型”和“非典型”猝倒之间的常见区别也没有很好地编纂。
我们旨在详细描述猝倒的表型变异性。我们纳入了 109 例有明确猝倒病史和证实的下丘脑分泌素-1 缺乏的患者。问卷包含 37 个项目，广泛涵盖猝倒的临床方面，包括触发因素、肌肉无力的模式和持续时间、感觉现象等相关方面，以及猝倒导致的日常生活限制。
“大笑”仅列在最常见触发因素的第 11 位。“兴奋大笑”更有力，表明情绪的一定强度对于“猝倒诱发”效应很重要。愤怒是排名最高的“非幽默”触发因素，其次是“意外遇到熟人”。约 60%的患者也有自发性猝倒发作。45%的患者经历部分和完全猝倒，30%只有部分猝倒。30%的完全猝倒发作持续时间超过 2 分钟。肌肉功能的突然恢复是一个重要特征。部分发作中最常累及的是下颌和面部，甚至多于膝盖或腿部。
猝倒表现出很大的表型多样性，因此目前的“典型”与“非典型”区分可能难以维持。我们建议，用不同程度的诊断信心对猝倒进行分级可能更有用。
