konnatale Hyperekplexie

Also known as Startle disease, Kok disease, congenital stiff man syndrome, familial startle disease, hereditary hyperekplexia, startle disease

Krankheit

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

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health specialty: neurology
exact match: www.orpha.net/ORDO/Orphanet_3197
genetic association: ARHGEF9
on focus list of Wikimedia project: WikiProject Medicine

Sources (2)

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Article · Deutsch

Die konnatale Hyperekplexie (Syn. Stiff-Baby-Syndrom) ist eine seltene angeborene genetische Störung (autosomal-dominant oder -rezessiv vererbt), die sich in neurologischen Symptomen (taktile und akustische Reize werden inadäquat beantwortet) äußert. Um einem plötzlichen Kindstod vorzubeugen, sind eine prompte Diagnose (einschließlich Abgrenzung von einer Epilepsie) und die rasche Einleitung einer geeigneten Behandlung notwendig. Das Syndrom wurde 1958 erstbeschrieben.

Abstract from DBpedia / Wikipedia · CC BY-SA