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[Startle disease: growing rigid with fear]

M A Tijssen1, J G van Dijk, R A Roos

  • 1Academisch Ziekenhuis, afd. Neurologie, Leiden.

Nederlands Tijdschrift Voor Geneeskunde
|September 23, 1995
PubMed
Summary

Hyperekplexia, or startle disease, is an inherited disorder causing exaggerated startle responses. This Dutch family study details two forms: major (with generalized stiffening) and minor (startle response only).

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Hyperekplexia, also known as startle disease, is a rare autosomal dominant neurological disorder.
  • It is characterized by an exaggerated startle reflex, particularly in response to auditory stimuli.

Observation:

  • Four patients from a Dutch family were diagnosed with hyperekplexia.
  • The patients included a 14-month-old girl and adults aged 45, 56, and 61.
  • The family exhibited two distinct forms of the disorder.

Findings:

  • The major form involves an excessive startle reaction followed by temporary generalized body stiffening, with continuous stiffness from birth to age two, leading to frequent falls.
  • The minor form is characterized solely by an excessive startle reaction.

Implications:

  • This study highlights the phenotypic variability within a single family affected by hyperekplexia.
  • Understanding these distinct forms aids in diagnosis and management of startle disease.
  • Further research into the genetic underpinnings of these forms may reveal novel therapeutic targets.

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