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Genetic and Rare Diseases Information Center (GARD)

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Chronic progressive external ophthalmoplegia


Other Names for this Disease

  • CPEO
  • Progressive external ophthalmoplegia
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Overview

Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis).[1][2] Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual.[2]

CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.[2]
Last updated: 10/10/2013

References

  1. DiMauro, Salvatore, and Michio Hirano. Mitochondrial DNA Deletion Syndromes. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mt-overview.
  2. Progressive external ophthalmoplegia. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia. Accessed 10/10/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chronic progressive external ophthalmoplegia. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic progressive external ophthalmoplegia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CPEO
  • Progressive external ophthalmoplegia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.