hiperexplexia
Sign in to saveAlso known as Startle disease, Kok disease, congenital stiff man syndrome, familial startle disease, hereditary hyperekplexia, startle disease
Hyperekplexia (; "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.
Key facts
- Medical condition.name
- Hyperekplexia
- Medical condition.synonyms
- Exaggerated surprise, exaggerated startle response, startle disease
- Medical condition.image
- PDB 1mot EBI.jpg
- Medical condition.caption
- Mutations of the neuroreceptor glycine receptor subunit alpha-1 (GLRA1) can cause hyperekplexia.
- Medical condition.pronounce
- /ˌhaɪ.pɚ.ɛkˈplɛk.si.ə/
- Medical condition.field
- Neurology
- Medical condition.symptoms
- Increased startle response to sudden auditory, visual, or tactile stimulation
- Medical condition.complications
- Increased alcohol and drug use
- Medical condition.duration
- Chronic
- Medical condition.causes
- Mutation of either the GLRA1 gene, GLRB gene, SLC6A5 gene, X-linked (ARHGEF9) gene, or GPHN gene
- Medical condition.medication
- Clonazepam, diazepam, or phenobarbital; carbamazepine; 5-hydroxytryptophan; phenytoin; valproate; piracetam
- Medical condition.frequency
- 1 in 40,000
via Wikipedia infobox
Wikidata facts
- Subclass of
- disease
Show 4 more facts
- health specialty
- neurology
- exact match
- www.orpha.net/ORDO/Orphanet_3197
- genetic association
- ARHGEF9
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0