Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hyperexplexia


Synonyms of Hyperexplexia
  • Exaggerated Startle Reaction
  • Familial Startle Disease
  • Hyperekplexia
  • Kok Disease
  • Startle Disease

Disorder Subdivisions



    General Discussion
    Hyperexplexia is a rare autosomal dominant, hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that can cause the affected person to fall stiffly, like a log, without loss of consciousness. Exaggeration of reflexes (hyperreflexia), and an unstable way of walking (gait) may also occur.

    The treatment of hyperexplexia is relatively uncomplicated and involves the use of anti-anxiety and anti-spastic medicines. However, the disorder is frequently misdiagnosed as a form of epilepsy so that the process of getting an accurate diagnosis may be prolonged.

    Organizations related to Hyperexplexia
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html