Chronic progressive external ophthalmoplegia: Difference between revisions
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{{Infobox medical condition | |||
| name = Chronic progressive external ophthalmoplegia | |||
| synonyms = CPEO | |||
| field = [[Neurology]] | |||
| symptoms = [[Ptosis]], [[ophthalmoplegia]], [[muscle weakness]] | |||
| onset = Typically in [[adulthood]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Mitochondrial DNA]] mutations | |||
| risks = Family history of mitochondrial disorders | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Myasthenia gravis]], [[Kearns-Sayre syndrome]] | |||
| treatment = [[Supportive care]], [[eyelid surgery]] | |||
| prognosis = Variable, generally progressive | |||
| frequency = Rare | |||
}} | |||
{{Short description|A mitochondrial disorder affecting eye muscles}} | {{Short description|A mitochondrial disorder affecting eye muscles}} | ||
{{Infobox medical condition | {{Infobox medical condition | ||
| Line 5: | Line 21: | ||
| image = [[File:Ragged red fibers in MELAS.jpg]] | | image = [[File:Ragged red fibers in MELAS.jpg]] | ||
| caption = Muscle biopsy showing ragged red fibers, a hallmark of mitochondrial myopathy seen in CPEO. | | caption = Muscle biopsy showing ragged red fibers, a hallmark of mitochondrial myopathy seen in CPEO. | ||
| pronounce = / | | pronounce = /Àà…ífŒ∏…ôlmo äÀåpliÀêd í…ô/ | ||
| field = [[Neurology]], [[Ophthalmology]], [[Genetics]] | | field = [[Neurology]], [[Ophthalmology]], [[Genetics]] | ||
| symptoms = Gradual paralysis of the [[extraocular muscles]], [[ptosis]], limited eye movement, [[muscle weakness]], [[exercise intolerance]] | | symptoms = Gradual paralysis of the [[extraocular muscles]], [[ptosis]], limited eye movement, [[muscle weakness]], [[exercise intolerance]] | ||
| Line 15: | Line 31: | ||
| risks = Family history of [[mitochondrial disease]], [[genetic mutations]] | | risks = Family history of [[mitochondrial disease]], [[genetic mutations]] | ||
| diagnosis = [[Muscle biopsy]], [[genetic testing]], [[EMG]], [[MRI]], [[ophthalmological exam]] | | diagnosis = [[Muscle biopsy]], [[genetic testing]], [[EMG]], [[MRI]], [[ophthalmological exam]] | ||
| differential = [[Myasthenia gravis]], [[Graves' ophthalmopathy]], [[ | | differential = [[Myasthenia gravis]], [[Graves' ophthalmopathy]], [[Kearns–Sayre syndrome]], [[oculopharyngeal muscular dystrophy]] | ||
| prevention = None known; [[genetic counseling]] may be helpful | | prevention = None known; [[genetic counseling]] may be helpful | ||
| treatment = Supportive care, [[eyelid surgery]], [[eye protection]], [[physical therapy]], [[aids for ptosis]] | | treatment = Supportive care, [[eyelid surgery]], [[eye protection]], [[physical therapy]], [[aids for ptosis]] | ||
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| deaths = Not typically fatal; related systemic complications may affect prognosis | | deaths = Not typically fatal; related systemic complications may affect prognosis | ||
}} | }} | ||
'''Chronic progressive external ophthalmoplegia''' (CPEO) is a rare [[neuromuscular disorder]] characterized by slowly progressive paralysis of the [[extraocular muscles]], which are responsible for controlling eye movements. This condition leads to [[ptosis]] (drooping of the eyelids) and limited eye movement, often resulting in [[diplopia]] (double vision). CPEO is primarily associated with [[mitochondrial myopathy]], a type of [[mitochondrial disease]]. | '''Chronic progressive external ophthalmoplegia''' (CPEO) is a rare [[neuromuscular disorder]] characterized by slowly progressive paralysis of the [[extraocular muscles]], which are responsible for controlling eye movements. This condition leads to [[ptosis]] (drooping of the eyelids) and limited eye movement, often resulting in [[diplopia]] (double vision). CPEO is primarily associated with [[mitochondrial myopathy]], a type of [[mitochondrial disease]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
CPEO is caused by defects in the [[mitochondria]], the energy-producing structures within cells. These defects can result from mutations in [[nuclear DNA]] or [[mitochondrial DNA]] (mtDNA). The mutations lead to impaired energy production, particularly affecting tissues with high energy demands, such as the [[muscles]] controlling eye movement. The accumulation of dysfunctional mitochondria in these muscles results in their progressive weakness and paralysis. | CPEO is caused by defects in the [[mitochondria]], the energy-producing structures within cells. These defects can result from mutations in [[nuclear DNA]] or [[mitochondrial DNA]] (mtDNA). The mutations lead to impaired energy production, particularly affecting tissues with high energy demands, such as the [[muscles]] controlling eye movement. The accumulation of dysfunctional mitochondria in these muscles results in their progressive weakness and paralysis. | ||
==Clinical Features== | ==Clinical Features== | ||
The hallmark of CPEO is the gradual onset of [[ophthalmoplegia]], which typically begins in adulthood. Patients often present with: | The hallmark of CPEO is the gradual onset of [[ophthalmoplegia]], which typically begins in adulthood. Patients often present with: | ||
* '''Ptosis''': Drooping of one or both eyelids, which may be the initial symptom. | * '''Ptosis''': Drooping of one or both eyelids, which may be the initial symptom. | ||
* '''Ophthalmoplegia''': Limited movement of the eyes in all directions, leading to difficulty in tracking objects and [[diplopia]]. | * '''Ophthalmoplegia''': Limited movement of the eyes in all directions, leading to difficulty in tracking objects and [[diplopia]]. | ||
* '''Facial Weakness''': Some patients may experience mild weakness of the facial muscles. | * '''Facial Weakness''': Some patients may experience mild weakness of the facial muscles. | ||
* '''Muscle Weakness''': In some cases, CPEO may be associated with generalized muscle weakness, particularly in the limbs. | * '''Muscle Weakness''': In some cases, CPEO may be associated with generalized muscle weakness, particularly in the limbs. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of CPEO is based on clinical examination, family history, and specialized tests. Key diagnostic tools include: | The diagnosis of CPEO is based on clinical examination, family history, and specialized tests. Key diagnostic tools include: | ||
* '''Ophthalmologic Examination''': To assess the extent of eye movement limitation and ptosis. | * '''Ophthalmologic Examination''': To assess the extent of eye movement limitation and ptosis. | ||
* '''Muscle Biopsy''': May reveal characteristic "ragged-red fibers," indicative of mitochondrial myopathy. | * '''Muscle Biopsy''': May reveal characteristic "ragged-red fibers," indicative of mitochondrial myopathy. | ||
* '''Genetic Testing''': To identify mutations in mtDNA or nuclear DNA associated with CPEO. | * '''Genetic Testing''': To identify mutations in mtDNA or nuclear DNA associated with CPEO. | ||
* '''Electromyography (EMG)''': To evaluate muscle function and detect abnormalities. | * '''Electromyography (EMG)''': To evaluate muscle function and detect abnormalities. | ||
==Management== | ==Management== | ||
There is currently no cure for CPEO, and treatment is primarily supportive. Management strategies include: | There is currently no cure for CPEO, and treatment is primarily supportive. Management strategies include: | ||
* '''Ptosis Surgery''': To improve eyelid function and vision. | * '''Ptosis Surgery''': To improve eyelid function and vision. | ||
* '''Prism Glasses''': To alleviate diplopia by correcting eye alignment. | * '''Prism Glasses''': To alleviate diplopia by correcting eye alignment. | ||
* '''Physical Therapy''': To maintain muscle strength and function. | * '''Physical Therapy''': To maintain muscle strength and function. | ||
* '''Genetic Counseling''': For affected individuals and their families to understand the inheritance patterns and risks. | * '''Genetic Counseling''': For affected individuals and their families to understand the inheritance patterns and risks. | ||
==Prognosis== | ==Prognosis== | ||
CPEO is a progressive condition, but the rate of progression can vary widely among individuals. While the disorder primarily affects eye muscles, some patients may develop additional symptoms related to mitochondrial dysfunction, such as [[cardiac conduction defects]] or [[sensorineural hearing loss]]. | CPEO is a progressive condition, but the rate of progression can vary widely among individuals. While the disorder primarily affects eye muscles, some patients may develop additional symptoms related to mitochondrial dysfunction, such as [[cardiac conduction defects]] or [[sensorineural hearing loss]]. | ||
==Related Pages== | ==Related Pages== | ||
* [[Mitochondrial disease]] | * [[Mitochondrial disease]] | ||
Latest revision as of 01:24, 4 April 2025
| Chronic progressive external ophthalmoplegia | |
|---|---|
| Synonyms | CPEO |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Ptosis, ophthalmoplegia, muscle weakness |
| Complications | N/A |
| Onset | Typically in adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mitochondrial DNA mutations |
| Risks | Family history of mitochondrial disorders |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Myasthenia gravis, Kearns-Sayre syndrome |
| Prevention | N/A |
| Treatment | Supportive care, eyelid surgery |
| Medication | N/A |
| Prognosis | Variable, generally progressive |
| Frequency | Rare |
| Deaths | N/A |
A mitochondrial disorder affecting eye muscles
| Chronic progressive external ophthalmoplegia | |
|---|---|
| |
| Synonyms | Progressive external ophthalmoplegia, CPEO |
| Pronounce | /Àà…ífŒ∏…ôlmo äÀåpliÀêd í…ô/ |
| Specialty | N/A |
| Symptoms | Gradual paralysis of the extraocular muscles, ptosis, limited eye movement, muscle weakness, exercise intolerance |
| Complications | Dysphagia, cardiomyopathy, sensorineural hearing loss, diabetes mellitus |
| Onset | Typically in young adulthood or middle age |
| Duration | Chronic and progressive |
| Types | CPEO, CPEO plus (includes systemic symptoms) |
| Causes | Mutations in mitochondrial DNA (mtDNA) or nuclear DNA, such as POLG, TWNK, RRM2B |
| Risks | Family history of mitochondrial disease, genetic mutations |
| Diagnosis | Muscle biopsy, genetic testing, EMG, MRI, ophthalmological exam |
| Differential diagnosis | Myasthenia gravis, Graves' ophthalmopathy, Kearns–Sayre syndrome, oculopharyngeal muscular dystrophy |
| Prevention | None known; genetic counseling may be helpful |
| Treatment | Supportive care, eyelid surgery, eye protection, physical therapy, aids for ptosis |
| Medication | No disease-specific drugs; coenzyme Q10 and vitamins may be used supportively |
| Prognosis | Slowly progressive; often compatible with normal life expectancy |
| Frequency | Rare; exact incidence unknown |
| Deaths | Not typically fatal; related systemic complications may affect prognosis |
Chronic progressive external ophthalmoplegia (CPEO) is a rare neuromuscular disorder characterized by slowly progressive paralysis of the extraocular muscles, which are responsible for controlling eye movements. This condition leads to ptosis (drooping of the eyelids) and limited eye movement, often resulting in diplopia (double vision). CPEO is primarily associated with mitochondrial myopathy, a type of mitochondrial disease.
Pathophysiology[edit]
CPEO is caused by defects in the mitochondria, the energy-producing structures within cells. These defects can result from mutations in nuclear DNA or mitochondrial DNA (mtDNA). The mutations lead to impaired energy production, particularly affecting tissues with high energy demands, such as the muscles controlling eye movement. The accumulation of dysfunctional mitochondria in these muscles results in their progressive weakness and paralysis.
Clinical Features[edit]
The hallmark of CPEO is the gradual onset of ophthalmoplegia, which typically begins in adulthood. Patients often present with:
- Ptosis: Drooping of one or both eyelids, which may be the initial symptom.
- Ophthalmoplegia: Limited movement of the eyes in all directions, leading to difficulty in tracking objects and diplopia.
- Facial Weakness: Some patients may experience mild weakness of the facial muscles.
- Muscle Weakness: In some cases, CPEO may be associated with generalized muscle weakness, particularly in the limbs.
Diagnosis[edit]
The diagnosis of CPEO is based on clinical examination, family history, and specialized tests. Key diagnostic tools include:
- Ophthalmologic Examination: To assess the extent of eye movement limitation and ptosis.
- Muscle Biopsy: May reveal characteristic "ragged-red fibers," indicative of mitochondrial myopathy.
- Genetic Testing: To identify mutations in mtDNA or nuclear DNA associated with CPEO.
- Electromyography (EMG): To evaluate muscle function and detect abnormalities.
Management[edit]
There is currently no cure for CPEO, and treatment is primarily supportive. Management strategies include:
- Ptosis Surgery: To improve eyelid function and vision.
- Prism Glasses: To alleviate diplopia by correcting eye alignment.
- Physical Therapy: To maintain muscle strength and function.
- Genetic Counseling: For affected individuals and their families to understand the inheritance patterns and risks.
Prognosis[edit]
CPEO is a progressive condition, but the rate of progression can vary widely among individuals. While the disorder primarily affects eye muscles, some patients may develop additional symptoms related to mitochondrial dysfunction, such as cardiac conduction defects or sensorineural hearing loss.
Related Pages[edit]
| Mitochondrial diseases | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
see also mitochondrial proteins
|
| Diseases of muscle, neuromuscular junction, and neuromuscular disease | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
