hy·per·ek·plex·i·a

(hī'pĕr-ek-plek'sē-ă), [MIM*149400]

A hereditary disorder in which there are pathologic startle responses, that is, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory; the stimuli induce often widespread and violent sudden contractions of the head, neck, spinal, and sometimes, limb musculature, resulting in involuntary shouting, jerking, jumping, and falling; autosomal dominant and recessive inheritance forms, with the responsible gene localized to chromosome 5q; probably the result of lack of inhibitory neurotransmitters, glycine, or GABA.

Synonym(s): kok disease, startle disease

[hyper- + G. ekplēxia, sudden shock, fr. ekplēssō, to startle]

Farlex Partner Medical Dictionary © Farlex 2012

hy·per·ek·plex·i·a

(hī'pĕr-ek-pleks'ē-ă)

A hereditary disorder in which there are pathologic startle responses, i.e., protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory; the stimuli induce often widespread and violent sudden contractions of the head, neck, spinal, and sometimes limb musculature, resulting in involuntary shouting, jerking, jumping, and falling; autosomal dominant and recessive inheritance forms, with the responsible gene localized to chromosome 5q; probably the result of lack of inhibitory neurotransmitters, glycine, or GABA.
Synonym(s): kok disease, startle disease.

[hyper- + G. ekplēxia, sudden shock, fr. ekplēssō, to startle]

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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References in periodicals archive

Hyperekplexia is a sudden, exaggerated startle response that occurs as a result of unexpected stimuli.

Non epileptic paroxysmal events in childhood

Hyperekplexia is a rare hereditary or symptomatic disorder with an abnormal response to unexpected auditory, visual, or tactile stimuli (1).

Clinical and electrophysiological findings in two siblings with familial hyperekplexia

" Both Lesley and Allan" Both Lesley and Allan carry the faulty gene that crry the faulty gene that causes hyperekplexia, but fortunately their eldest son, Josh, seven, did not inherit the illness.

Everday is a fight for life for Jacob

Swansea University and UCL School of Pharmacy researchers discovered a second gene, GlyT2, as a major disease factor for "startle" disease (also known as hyperekplexia) which is characterised by an exaggerated reaction to unexpected stimuli, such as touch or loud noises.

BREAKING HEALTH

It's the worst night of the year for Andy Latham, 33, from Lincolnshire, who is believed to be Britain's only sufferer of hyperekplexia, or startle disease.

Bonfire Night is over

The rare neurological disorder (real name hyperekplexia) has affected Andy - a member of disabled stripping troupe The Crippendales - since childhood.

It's November 5th & I am quite literally.. SCARED STIFF

This report describes anaesthesia for consanguineous siblings with the rare genetic condition hyperekplexia. This condition is also known as 'stiff baby syndrome' or 'startle disease' Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the [alpha]-1 subunit of the inhibitory glycine receptors in the caudal pontine reticular formation leading to neuronal hyperexcitability.

Anaesthetic implications of hyperekplexia--'startle disease'

She was born with a neurological condition, hyperekplexia, but doctors said it was not fatal.

PREGNANT JENNI DIES ON SON'S 1st BIRTHDAY; Husband's heartache after wife is found dead at summer school

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.

Detection of loss of heterozygosity by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based analysis of single-nucleotide polymorphisms

Also known as hyperekplexia), the disease is characterised by an exaggerated reaction to unexpected stimuli, such as touch or loud noises.

Swansea scientists help track down a cause of 'startle' disease

The discovery came as the team, led by Professor Mark Rees, carried out complex research looking at genes thought to be responsible for the rare hereditary neurological disorder hyperekplexia.

Rogue gene may help scientists save babies at risk of cot death