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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary hyperekplexia


Other Names for this Disease
  • Startle disease, familial
  • Startle reaction, exaggerated
  • Exaggerated startle reaction
  • STHE
  • Stiff-baby syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might hereditary hyperekplexia be treated?

Hyperekplexia is commonly treated with the anti-anxiety and anti-spastic drug clonazepam. Other drugs which have shown variable results (mostly in case studies) include carbamazepine, phenytoin, diazepam, valproate, 5-hydroxytryptophan, piracetam, phenobarbital, and fluoxetine.[1][2][3] In some cases, a combination of treatments (i.e. clobazam and clonazepam) may be needed.[3][4] Physical and cognitive therapy may help reduce anxiety as a supportive measure, which may translate into improved ability to walk.[1][2]
Last updated: 2/19/2016

References
  1. Haruno L. Hyperekplexia. National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/hyperekplexia/.
  2. Tijssen MAJ, Rees MI. Hyperekplexia. GeneReviews. October 2012; http://www.ncbi.nlm.nih.gov/books/NBK1260/.
  3. Mineyko A, Whiting S, Graham GE. Hyperekplexia: treatment of a severe phenotype and review of the literature. Can J Neurol Sci. 2011 May; 38(3):411-6. http://www.ncbi.nlm.nih.gov/pubmed/21515498. Accessed 11/22/2015.
  4. McAbee GN. Clobazam-clonazepam combination effective for stimulus-induced falling in hyperekplexia. J Child Neurol. 2015 Jan; 30(1):91-2. http://www.ncbi.nlm.nih.gov/pubmed/24453146. Accessed 11/22/2015.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hereditary hyperekplexia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Startle disease, familial
  • Startle reaction, exaggerated
  • Exaggerated startle reaction
  • STHE
  • Stiff-baby syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.