Medical Definition of Hyperexplexia

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Hyperexplexia: A rare genetic disorder inherited in an autosomal dominant manner in which babies have an exaggerated startle reflex. Symptoms at birth may include muscle stiffness (hypertonia), an exaggerated response to being startled, and strong brain stem reflexes (especially head-retraction reflex). The startle reflex is sometimes accompanied by sudden stiffness (acute generalized hypertonia), which can cause the affected person to fall to the ground like a log. Treatment is via medications. Also known as exaggerated startle disease, hyperekplexia, Kok disease, startle disease, and stiff baby syndrome.

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Reviewed on 10/30/2018

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