Hiperecplexia

Also 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

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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)

via Wikidata · CC0

Article · Português

Hiperecplexia ("espasmo exagerado") é um distúrbio neurológico caracterizado classicamente por resultantes de estímulos táteis ou acústicos e hipertonia. A hipertonia pode ser atenuada durante o sono e menos proeminente após um ano de idade. A hiperecplexia clássica é causada por mutações genéticas em vários genes diferentes, os quais desempenham um papel importante na neurotransmissão da glicina. A glicina é usada pelo sistema nervoso central como um neurotransmissor inibitório. A hiperecplexia é geralmente classificada como uma doença genética, mas alguns distúrbios podem imitar o sobressalto exagerado da hiperecplexia.

Abstract from DBpedia / Wikipedia · CC BY-SA