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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...

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