Congenital cranial dysinnervation disorders

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

doi:10.1016/B978-0-12-809324-5.01333-X

Congenital cranial dysinnervation disorders

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

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
Publisher	Elsevier Science Ltd.
Pages	346-355
Number of pages	10
ISBN (Electronic)	9780128093245
DOIs	https://doi.org/10.1016/B978-0-12-809324-5.01333-X
State	Published - 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

General Medicine

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10.1016/B978-0-12-809324-5.01333-X

Cite this

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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.",

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AU - Abu-Amero, K. K.

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Congenital cranial dysinnervation disorders

Abstract

Keywords

ASJC Scopus subject areas

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