Andermann F, Keene D L, Andermann E, Quesney L F
Brain. 1980 Dec;103(4):985-97. doi: 10.1093/brain/103.4.985.
Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions. Episodes of shaking of the limbs lasting for several minutes and resembling generalized clonus or repetitive myoclonus occur. These are most often nocturnal and are also unaccompanied by loss of consciousness. the patients are hyperreflexic and show an increased incidence of associated neurological and electroencephalographic abnormalities. The minor form of startle disease is only manifested by excessive startle and this is inconstant. In infancy it is brought out by febrile illness and in adult life by emotional stress. Gastaut and Villeneuve postulated the existence of a sporadic form of hyperekplexia different from the disorder described by Suhren et al. Review of their report and comparison with the cases of Suhren et al, and our own patients leads us to believe that the sporadic and familial forms of startle disease are the same. The disorder is rare, probably misdiagnosed initially as spastic quadriplegia, and later as epilepsy. Clonazepam appears to be the treatment of choice and its effect is sustained.
惊吓症是一种具有两种表型表现的常染色体显性疾病。在主要形式中，婴儿期出现张力亢进，后期步态不稳。患者会出现无昏迷的跌倒发作，在此过程中，他们经常受伤或遭受脑震荡。会出现持续数分钟的肢体抖动发作，类似于全身性阵挛或重复性肌阵挛。这些发作最常发生在夜间，且也不会伴有意识丧失。患者反射亢进，伴有神经和脑电图异常的发生率增加。惊吓症的次要形式仅表现为过度惊吓，且这种表现并不持续。在婴儿期，发热性疾病会引发过度惊吓，在成年期，情绪压力会引发过度惊吓。加斯陶和维勒纽夫推测存在一种与苏伦等人描述的疾病不同的散发性僵人综合征形式。对他们报告的回顾以及与苏伦等人的病例和我们自己患者的比较，使我们相信惊吓症的散发性和家族性形式是相同 的。这种疾病很罕见，最初可能被误诊为痉挛性四肢瘫痪，后来又被误诊为癫痫。氯硝西泮似乎是首选治疗药物，且其效果持久。
