hyperekplexia

(redirected from Kok 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]
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

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).
Medical Dictionary, © 2009 Farlex and Partners