Tijssen M A, van Dijk J G, Roos R A, Padberg G W
Academisch Ziekenhuis, afd. Neurologie, Leiden.
Ned Tijdschr Geneeskd. 1995 Sep 23;139(38):1940-3.
Hyperekplexia or startle disease was diagnosed in four patients, a girl of 14 months, two men of 45 and 61 years old, and a woman of 56 years old. This is an autosomal dominant inherited disorder, characterized by excessive startle reactions, notably to auditory stimuli. The four patients belong to a Dutch family in which two forms of the disorder occur. The first one is the major form, in which the startle reaction is followed by a temporary generalized stiffening of the body. These patients experience continuous generalized stiffness from birth to about the second year of life. They fall down frequently. The other is the minor form, characterized by an excessive startle reaction only.
四名患者被诊断患有惊吓症或惊吓病，分别是一名14个月大的女孩、两名45岁和61岁的男性以及一名56岁的女性。这是一种常染色体显性遗传疾病，其特征是过度惊吓反应，尤其是对听觉刺激。这四名患者属于一个荷兰家族，该家族中出现了两种形式的这种疾病。第一种是主要形式，惊吓反应后会出现身体暂时的全身性僵硬。这些患者从出生到大约两岁一直经历持续性的全身性僵硬。他们经常摔倒。另一种是次要形式，仅以过度惊吓反应为特征。
