Hereditary hyperekplexia (Q101726): Difference between revisions

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Latest revision as of 18:34, 16 August 2026

Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. Hereditary hyperekplexia manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high-frequency trembling. Newborns are at risk for sudden infant death due to laryngospasm and cardiorespiratory failure.

Language	Label	Description	Also known as
default for all languages	ID_988250063
English	Hereditary hyperekplexia	Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. Hereditary hyperekplexia manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high-frequency trembling. Newborns are at risk for sudden infant death due to laryngospasm and cardiorespiratory failure.