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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic progressive external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Adult onset -
Amyotrophy -
Autosomal dominant inheritance -
Bradykinesia -
Cataract -
Decreased activity of cytochrome C oxidase in muscle tissue -
Depression -
Dysarthria -
Dysphagia -
EMG: myopathic abnormalities -
Exercise intolerance -
Facial palsy -
Gait ataxia -
Gastroparesis -
Hypergonadotropic hypogonadism -
Hyporeflexia -
Impaired distal proprioception -
Impaired distal vibration sensation -
Increased serum lactate -
Increased variability in muscle fiber diameter -
Limb muscle weakness -
Multiple mitochondrial DNA deletions -
Muscle fiber necrosis -
Parkinsonism with favorable response to dopaminergic medication -
Pes cavus -
Phenotypic variability -
Premature ovarian failure -
Primary amenorrhea -
Progressive disorder -
Progressive external ophthalmoplegia -
Progressive muscle weakness -
Ptosis -
Ragged-red muscle fibers -
Resting tremor -
Rigidity -
Secondary amenorrhea -
Sensorineural hearing impairment -
Sensory axonal neuropathy -
Subsarcolemmal accumulations of abnormally shaped mitochondria -
Testicular atrophy -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.