Congenital cranial dysinnervation disorders

T. M. Bosley, D. T. Oystreck, K. K. Abu-Amero

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance but sharing the characteristic that some or all of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but in 2002 the term congenital cranial dysinnervation disorders (CCDD) was suggested because of evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic cause.

Original languageEnglish (US)
Title of host publicationThe Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PublisherElsevier Science Ltd.
Pages346-355
Number of pages10
ISBN (Electronic)9780128093245
DOIs
StatePublished - Jan 1 2016

Keywords

  • Brain development
  • Brainstem
  • Congenital cranial dysinnervation disorders
  • Congenital fibrosis of the extraocular muscles
  • Duane retraction syndrome
  • Extraocular muscles
  • HOXA1spectrum disorders
  • Horizontal gaze palsy and progressive scoliosis
  • Moebius syndrome
  • Orbit

ASJC Scopus subject areas

  • Medicine(all)

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    Bosley, T. M., Oystreck, D. T., & Abu-Amero, K. K. (2016). Congenital cranial dysinnervation disorders. In The Curated Reference Collection in Neuroscience and Biobehavioral Psychology (pp. 346-355). Elsevier Science Ltd.. https://doi.org/10.1016/B978-0-12-809324-5.01333-X