hyperekplexia

(redirected from Startle disease)

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 ?
But he has hyperek-hyperekplexia, also known as startle disease, which causes him to react in an exaggerated way to being shocked as his entire body becomes rigid.
Dr Caroline Johnston, research evaluation manager at Action Medical Research said: "Although the symptoms of startle disease often fade by the time babies reach their first birthday, they can continue throughout childhood and into adulthood, with some children experiencing severe breathing problems and others having learning dif-dif ficulties.
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.