Other Names for this Disease
- Exaggerated startle reaction
- Hyperexplexia hereditary
- Kok disease
- Startle disease, familial
- Startle reaction, exaggerated
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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. In some cases, a combination of treatments (i.e. clobazam and clonazepam) may be needed. Physical and cognitive therapy may help reduce anxiety as a supportive measure, which may translate into improved ability to walk.
Last updated: 11/22/2015
- Haruno L. Hyperekplexia. National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/hyperekplexia/. Accessed 11/22/2015.
- Tijssen MAJ, Rees MI. Hyperekplexia. GeneReviews. October 2012; http://www.ncbi.nlm.nih.gov/books/NBK1260/. Accessed 11/22/2015.
- 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.
- 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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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. Click on the link to view the article on this topic.
- 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.