Chronic Progressive External Ophthalmoplegia (CPEO)
What is Chronic Progressive External Ophthalmoplegia (CPEO)?
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). 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 genetic changes 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. 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.
https://rarediseases.info.nih.gov/diseases/4503/chronic-progressive-external-ophthalmoplegia
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). 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 genetic changes 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. 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.
https://rarediseases.info.nih.gov/diseases/4503/chronic-progressive-external-ophthalmoplegia
The prevalence of CPEO is unknown.
https://www.raregenomics.org/cpeo
CPEO can be caused by mutations in several genes. These genes can be located in the mitochondria (mitochondrial DNA) or in the center of the cells (nuclear DNA). These mutations can cause the mitochondria—structures in the cells that produce energy for normal cell function—to malfunction.
https://www.raregenomics.org/cpeo
| Name | Description |
|---|---|
| Double vision | Double vision |
| Facial paralysis | Facial paralysis |
| Facial muscle weakness | Facial muscle weakness |
| Muscle weakness | Muscle weakness |
| Difficulty swallowing | Difficulty swallowing |
CPEO can be diagnosed with:
-
Examination by a doctor
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Blood tests
-
Urine tests
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A muscle biopsy
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Genetic tests
https://www.raregenomics.org/cpeo
Treatment for CPEO depends on the symptoms. If someone has drooping eyelids, they could have surgery or wear special glasses with a “ptosis crutch” to lift the upper eyelids. Strabismus surgery could be used to correct double vision. A supplement called coenzyme Q10 may help improve brain function if there’s a deficiency. Hearing aids may improve hearing loss.
https://www.raregenomics.org/cpeo
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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