Search

  • HOME
  • Search
Case Report
A Case Report of Congenital Hyperekplexia in Twin
Bong Seok Choi, Young Mi Kim, Yun Jin Lee, Su Eun Park, Sang Ook Nam
Clin Exp Pediatr. 2002;45(10):1284-1288.   Published online October 15, 2002
Hyperekplexia or startle disease is a hereditary neurological disorder characterized by an abnormally exaggerated startle response to tactile, auditory and visual stimuli, together with a global muscular hypertonia and hyperactive tendon reflexes. This disease is a rare, genetically determined disorder, with an autosomal dominant inheritance with variable expression, first described by Suhren, et al. We report two cases of familial hyperekplexia, who developed hypertonia...