Familial startle disease (hyperexplexia). Electrophysiologic studies

Arch Neurol. 1984 Jan;41(1):71-4. doi: 10.1001/archneur.1984.04050130077028.

Abstract

Six affected members from a family of 15 patients with familial startle disease (hyperexplexia) underwent extensive electrophysiologic evaluation. The most marked abnormality consisted of prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The somatosensory evoked responses were also relatively high in amplitude. These findings suggest that hyperactive long-loop reflexes may constitute the physiologic basis of startle disease.

MeSH terms

  • Electric Stimulation
  • Electroencephalography
  • Evoked Potentials, Somatosensory
  • H-Reflex
  • Humans
  • Median Nerve / physiology
  • Movement Disorders / genetics*
  • Movement Disorders / physiopathology
  • Muscle Contraction
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Neural Conduction
  • Peroneal Nerve / physiology
  • Reaction Time
  • Reflex, Startle*