僵人综合征(stiff person syndrome,SPS)是一组由抗体介导的γ-氨基丁酸(GABA)能神经传递受损引起的罕见的(发病率1/100万)自身免疫性神经系统疾病,波动性肌肉僵硬、叠加痉挛和夸张的惊吓反应是该病的一组核心特征[1]。过度惊跳是指患...僵人综合征(stiff person syndrome,SPS)是一组由抗体介导的γ-氨基丁酸(GABA)能神经传递受损引起的罕见的(发病率1/100万)自身免疫性神经系统疾病,波动性肌肉僵硬、叠加痉挛和夸张的惊吓反应是该病的一组核心特征[1]。过度惊跳是指患者对轻微刺激产生夸张的惊吓反射,患者对重复刺激不能产生适应性,亦不能通过预先的提示使惊吓样反应减轻[2]。虽然SPS的特征是以僵直为主的运动减少,而过度惊跳是一种运动增多的反应,但国外一些文献注意到,过度惊跳却可以是SPS的一种突出表现[1,3]。展开更多
We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk f...We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tactile stimuli or percussion at the base of the nose can also elicit excessive jerking or tonic attack. The diagnosis of hyperekplexia is a purely clinical one. A defect of the alpha1 subunit of inhibitory glycine receptor (GLRA1) has been observed in the dominant form with amutation in the chromosome 5. Clonazepam is effective and decreases the severity of the symptoms. The disease tends to improve after infancy and the psychomotor development is normal. The major form of “hyperekplexia”should be considered whenever one is confronted with neonatal hypertonicity associated with paroxysmal tonic manifestations (without electroencephalography anomalies). Conclusion: the diagnosis of hyperekplexia should be evaluated in any neonate with tonic attacks without evident cause.展开更多
文摘僵人综合征(stiff person syndrome,SPS)是一组由抗体介导的γ-氨基丁酸(GABA)能神经传递受损引起的罕见的(发病率1/100万)自身免疫性神经系统疾病,波动性肌肉僵硬、叠加痉挛和夸张的惊吓反应是该病的一组核心特征[1]。过度惊跳是指患者对轻微刺激产生夸张的惊吓反射,患者对重复刺激不能产生适应性,亦不能通过预先的提示使惊吓样反应减轻[2]。虽然SPS的特征是以僵直为主的运动减少,而过度惊跳是一种运动增多的反应,但国外一些文献注意到,过度惊跳却可以是SPS的一种突出表现[1,3]。
文摘We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tactile stimuli or percussion at the base of the nose can also elicit excessive jerking or tonic attack. The diagnosis of hyperekplexia is a purely clinical one. A defect of the alpha1 subunit of inhibitory glycine receptor (GLRA1) has been observed in the dominant form with amutation in the chromosome 5. Clonazepam is effective and decreases the severity of the symptoms. The disease tends to improve after infancy and the psychomotor development is normal. The major form of “hyperekplexia”should be considered whenever one is confronted with neonatal hypertonicity associated with paroxysmal tonic manifestations (without electroencephalography anomalies). Conclusion: the diagnosis of hyperekplexia should be evaluated in any neonate with tonic attacks without evident cause.
