| Hyperekplexia | |
|---|---|
| Other names | Exaggerated surprise, exaggerated startle response, startle disease[1] |
 | |
| Mutations of the neuroreceptor glycine receptor subunit alpha-1 (GLRA1) can cause hyperekplexia. | |
| Pronunciation |
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| Specialty | Neurology |
| Symptoms | Increased startle response to sudden auditory, visual, or tactile stimulation |
| Complications | Increased alcohol and drug use |
| Duration | Chronic |
| Causes | Mutation of either the GLRA1 gene, GLRB gene, SLC6A5 gene, X-linked (ARHGEF9) gene, or GPHN gene[2] |
| Medication | Clonazepam, diazepam, or phenobarbital; carbamazepine; 5-hydroxytryptophan; phenytoin; valproate; piracetam[2] |
| Frequency | 1 in 40,000[2] |
Hyperekplexia (/ˌhaɪ.pər.ɛkˈplɛk.si.ə/; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.
Classic hyperekplexia is caused by genetic mutations in a number of different genes, all of which play an important role in glycine neurotransmission. Glycine is used by the central nervous system as an inhibitory neurotransmitter. Hyperekplexia is generally classified as a genetic disease;[3] some disorders can mimic the exaggerated startle of hyperekplexia.[4]
- ^ Beers MH (2006). The Merck Manual (16th ed.). Whitehouse Station, NJ: Merck Research Laboratories. p. 1764. ISBN 0911910-18-2.
- ^ a b c Kerkar Pramod, M.D., FFARCSI, DA (22 December 2015). "Exaggerated Startle Response: Causes, Symptoms, Treatment, Recovery, Yoga". PainAssist. Retrieved 19 May 2020.
{{cite web}}: CS1 maint: multiple names: authors list (link) - ^ Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA (2006-05-19). "Startle Syndromes". Lancet Neurology. 5 (6): 513–524. doi:10.1016/S1474-4422(06)70470-7. PMID 16713923. S2CID 24056686.
- ^ van de Warrenburg BP, C. Cordivari, P. Brown, K. P. Bhatia (2007-04-05). "Persisting Hyperekplexia After Idiopathic, Self-Limiting Brainstem Encephalopathy". Movement Disorders. 22 (7): 1017–20. doi:10.1002/mds.21411. PMID 17415799. S2CID 30137238.