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Myopathies affecting the extraocular muscles in children

Authors
Andrew G Lee, MD
Paul W Brazis, MD
Section Editors
Evelyn A Paysse, MD
Marc C Patterson, MD, FRACP
Deputy Editor
Carrie Armsby, MD, MPH

OVERVIEW

Most generalized myopathies do not affect the extraocular muscles. However, there are some notable exceptions. Chronic progressive external ophthalmoplegia (CPEO) is a nonspecific term that is used to describe a range of myopathies that affect the extraocular muscles. These progressive ophthalmoplegias include:

  • Isolated CPEO
  • Kearns-Sayre syndrome
  • Oculopharyngeal muscular dystrophy
  • Myotonic dystrophy
  • Myotubular myopathy

The progressive forms of ophthalmoplegia should be distinguished from the static forms of ophthalmoplegia, which include:

The extraocular muscles often are involved in the mitochondrial myopathies, such as Kearns-Sayre syndrome [1]. Mitochondrial myopathies also can manifest with facial, bulbar, and limb myopathy; neurologic findings (eg, ataxia, spasticity, peripheral neuropathy, deafness, dementia); other ocular findings (eg, optic atrophy, pigmentary degeneration of retina); cardiac conduction abnormalities; gastrointestinal motility; and endocrine, skin, and skeletal abnormalities. (See "Approach to the metabolic myopathies".)

            

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Literature review current through: Nov 2016. | This topic last updated: Tue May 26 00:00:00 GMT+00:00 2015.
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