Hyperekplexia

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Clinic

  • A very rare neurologic disorder classically characterized 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 system as an inhibitory neurotransmitter.
  • Hyperekplexia is generally classified as a genetic disease, but some disorders can mimic the exaggerated startle of hyperekplexia.


Signs and symptoms

The three main signs of hyperekplexia are

  • Generalized stiffness
  • Excessive startle beginning at birth
  • Nocturnal myoclonus
  • Affected individuals are fully conscious during episodes of stiffness, which consist of forced closure of the eyes and an extension of the extremities followed by a period of generalized stiffness and uncontrolled falling at times.


Other signs and symptoms include

  • Episodic neonatal apnea
  • Excessive movement during sleep
  • Head-retraction reflex
  • The link to some cases of Sudden Infant Death remains controversial.