hyperekplexia

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

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Article

13 sections

Contents

Signs and symptoms
Genetics
GLRA1
GLRB
SLC6A5
GPHN
ARHGEF9
Diagnosis
Treatment
History
See also
References
External links

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; some disorders can mimic the exaggerated startle of hyperekplexia.