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- W2112337026 abstract "Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test. The disease is inherited in an autosomal dominant fashion. Recessively inherited and sporadic forms of the disorder are also seen. Neonatal hyperekplexia is extremely rare but important because, if undiagnosed and untreated, the disease can be fatal. Hyperekplexia is easily mistaken for commoner disorders such as spastic cerebral palsy and epilepsy. Clonazepam is of benefit, but it does not always stop the prolonged spasms. Forced flexion of baby’s head toward the trunk is the most effective treatment. We report a young female infant who presented with excessive jerky movements of the limbs in response to tactile stimuli, associated with episodic generalized stiffness and irritability since her birth." @default.
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- W2112337026 date "2003-11-01" @default.
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- W2112337026 title "Neonatal Hyperekplexia: A Case Report" @default.
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