hyperekplexia

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]

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).

单词	hyperekplexia
释义	hyperekplexia hy·per·ek·plex·i·a (hī'pĕr-ek-plek'sē-ă), [MIM149400] 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] 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).
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