hyperekplexia


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

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]

hyperekplexia

, hyperexplexia (hī″pĕr-ĕk-plĕk'sē-ă) (-ĕks-) [Gr. hyper, over, above, excessive, + ekplexia, sudden shock]
Excessive startling in response to sound or physical contact. Extreme reflex reaction to neurological stimulation is often an autosomal (dominant or recessive) disorder. It may also occur in some degenerative neurological disorders (e.g., multiple sclerosis).
References in periodicals archive ?
Hyperekplexia is a sudden, exaggerated startle response that occurs as a result of unexpected stimuli.
Hyperekplexia is a rare hereditary or symptomatic disorder with an abnormal response to unexpected auditory, visual, or tactile stimuli (1).
Hallett, "Physiological abnormalities in hereditary hyperekplexia," Annals of Neurology, vol.
" 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.
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.
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.
The rare neurological disorder (real name hyperekplexia) has affected Andy - a member of disabled stripping troupe The Crippendales - since childhood.
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.
She was born with a neurological condition, hyperekplexia, but doctors said it was not fatal.
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
Also known as hyperekplexia), the disease is characterised by an exaggerated reaction to unexpected stimuli, such as touch or loud noises.
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.