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Diseases

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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Symptoms

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What are the signs and symptoms of chronic progressive external ophthalmoplegia?

The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40.[1][2] The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or paralysis of the eye muscles (ophthalmoplegia). The condition may be unilateral (affecting one eye) or bilateral (affecting both eyes).[3] Some affected individuals also have weakness of the skeletal muscles (myopathy), specifically of the arms, legs, and/or neck. This may be especially noticeable during exercise.[1][2] Muscle weakness may also cause difficulty swallowing (dysphagia).[2]

Sometimes, CPEO may be associated with other signs and symptoms. In these cases, the condition is referred to as "progressive external ophthalmoplegia plus" (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression.[2]

CPEO can also occur as part of other underlying conditions such as 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.
  3. Van Goethem, Gert et al. . Progressive External Ophthalmoplegia Characterized by Multiple Deletions of Mitochondrial DNA. NeuroMolecular Medicine . 2003;


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.