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Last updated: 04 January 2025 Print

Hyperekplexia

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Hyperekplexiastiff baby syndrome

Hyperekplexia, also known as stiff baby syndrome, is a rare neurological disorder characterized by abnormal startle responses and muscle stiffness. The condition primarily affects neonates and infants, though milder forms can persist into adulthood.

Clinical Features:

  1. Neonatal Stiffness:

    • Generalized muscle rigidity, which can mimic increased tone, is often present at birth.
  2. Excessive Startle Reflex:

    • Exaggerated startle responses to tactile, auditory, or visual stimuli are hallmark features.
    • Startle can trigger stiffening of the entire body (generalized tonic reflex), leading to falls or apnea.
  3. Prolonged Apnea:

    • Severe startle episodes may cause apnea and cyanosis, which can be life-threatening.

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