hyperekplexia

Hyperekplexia /ˌhaɪ.pɚ.ɛkˈplɛk.si.ə/ ('exaggerated surprise') is a very rare neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep and less prominent after a year of age. Classic hyperekplexia is caused by genetic mutations in a number of different genes, all of which play an important role in glycine neurotransmission. Glycine is used by the central nervous ...