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Disease Profile

Chronic progressive external ophthalmoplegia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Progressive external ophthalmoplegia; CPEO

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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]

Symptoms

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]

Treatment

Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a “ptosis crutch” to lift the upper eyelids.[4] Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs.[5]

Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO.[1]

Management Guidelines

  • GeneReviews provides a current, expert-authored, peer-reviewed, full-text article on mitochondrial disorders, including CPEO. GeneReview articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • 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. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Chronic progressive external ophthalmoplegia in a table called Phenotypic Series. Each entry in OMIM includes 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.
          • 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.

            References

            1. DiMauro S, Michio H. Mitochondrial DNA Deletion Syndromes. GeneReviews. May 3, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1203/.
            2. Progressive external ophthalmoplegia. Genetics Home Reference. May 2016; https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia.
            3. Van Goethem, Gert et al. . Progressive External Ophthalmoplegia Characterized by Multiple Deletions of Mitochondrial DNA. NeuroMolecular Medicine . 2003;
            4. Mitochondrial Myopathies (MM) Medical Management. Muscular Dystrophy Association. https://www.mda.org/disease/mitochondrial-myopathies/medical-management. Accessed 1/19/2017.
            5. Mercandetti M, Cohen AJ. Chronic Progressive External Ophthalmoplegia. Medscape. June 20, 2016; https://emedicine.medscape.com/article/1215103-overview.
            6. Auré K, Ogier de Baulny H, Laforet P, Jardel C, Eymard B, Lombes A. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain. April 17, 2007; 130(6):1516-1524. https://brain.oxfordjournals.org/cgi/content/full/130/6/1516?ck=nck.

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