びっくり病
Sign in to saveAlso known as Startle disease, Kok disease, congenital stiff man syndrome, familial startle disease, hereditary hyperekplexia, startle disease
不意をつく音や接触などにより筋痙攣・硬直が誘発される非常に稀な病気
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
Article · 日本語
びっくり病（びっくりびょう、英語: Startle disease）は、不意をつく音や接触などにより筋痙攣・硬直が誘発される非常に稀な病気であり、主に遺伝性とされる。別名：過剰驚愕症（英語: Hyperekplexia）、過度驚愕（英語: Exaggerated startle）、先天性スティッフマン症候群（英語: Congenital stiff-man syndrome）、乳児硬直症候群（英語: Stiff baby Syndrome）。
Abstract from DBpedia / Wikipedia · CC BY-SA