Chronic progressive external ophthalmoplegia
- Progressive external ophthalmoplegia
Your QuestionI would like to learn more about chronic progressive external opthalmoplegia, particularly how it can be treated. Also does the rate of progression vary from person to person? What is the typical prognosis (long term outlook) for people with this condition? Can chronic progressive external opthalmoplegia affect facial muscles as well?
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Questions on this page
- What is chronic progressive external ophthalmoplegia?
- What are the signs and symptoms of chronic progressive external ophthalmoplegia?
- Is facial weakness a symptom of chronic progressive external ophthalmoplegia?
- Is chronic progressive external ophthalmoplegia found in any other conditions?
- Is chronic progressive external ophthalmoplegia inherited?
- How can I find a genetics professional in my area?
- How might chronic progressive external ophthalmoplegia be treated?
- What is the long-term outlook (prognosis) for individuals with chronic progressive external ophthalmoplegia?
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.
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.
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.
Chronic progressive external ophthalmoplegia (CPEO) can be found in other forms of mitochondrial myopathies. In particular, CPEO is found in a related mitochondrial myopathy called Kearns-Sayre Syndrome. Diagnosis of Kearns-Sayer syndrome requires the presence of the following symptoms:
- Chronic progressive external ophthalmoplegia onset in persons younger than 20 years;
- Pigmentary degeneration, a “salt-and-pepper” pigmentation in the retina
- At least one of the following:
- Abnormalities of the electrical signals that control the heartbeat (heart conduction defects)
- Uncoordinated muscle movement (cerebellar ataxia)
- Raised cerebrospinal fluid (CSF) protein levels (>100 mg/dL)
To find out more about Kearns-Sayre sydrome, including a more complete list of signs and symptoms, click here to visit the resource page on this topic.
In addition, some people with CPEO have some symptoms of Kearns-Sayre syndrome, such as ataxia, dementia, or sensorineural hearing loss, in addition to the characteristic symptoms of CPEO. In these cases the people may be said to have CPEO-plus.
CPEO can also be found in oculopharyngeal dystrophy, myasthenia gravis, and Graves disease.
CPEO is considered a "mitochondrial disorder." This is because all the genetic mutations that can cause CPEO ultimately result in dysfunction of the mitochondria, which are structures in our cells that produce energy required for normal cell function. While most of our DNA is located in the cell's center (nuclear DNA), some of our DNA is located within the mitochondria (mitochondrial DNA). 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.
Unlike nuclear DNA which is inherited from both the mother and the father, mitochondrial DNA is inherited from only the mother. In CPEO, the affected mitochondria (i.e., the ones carrying the mutations) are found only in the skeletal muscle cells. These mitochondrial DNA mutations are almost always sporadic (occurring by chance for the first time in the affected individual). Nuclear gene mutations that cause CPEO may be inherited in an autosomal recessive or autosomal dominant manner, depending on the gene involved. The risk for other family members to be affected depends on the genetic cause and the inheritance pattern in the family.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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.
For individuals with additional symptoms or another underlying condition associated with CPEO, the prognosis depends on the specific signs and symptoms present and/or the outlook associated with the underlying condition in the affected individual. For this reason, obtaining an accurate diagnosis is very important.
- 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.
- Progressive external ophthalmoplegia. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia. Accessed 10/10/2013.
- Van Goethem, Gert et al. . Progressive External Ophthalmoplegia Characterized by Multiple Deletions of Mitochondrial DNA. NeuroMolecular Medicine . 2003;
- Facts About Mitochondrial Myopathies . Muscular Dystrophy Association. 2008; http://www.mda.org/publications/mitochondrial_myopathies.html. Accessed 11/11/2009.
- Hampton, Roy. Chronic Progressive External Ophthalmoplegia. eMedicine. 2008; http://emedicine.medscape.com/article/1215103-overview. Accessed 11/11/2009.
- Karine Auré et al.,. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain. 2007; http://brain.oxfordjournals.org/cgi/content/full/130/6/1516?ck=nck. Accessed 11/18/2009.