Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions Autosomal Recessive 6 C5882731
A rare mitochondrial disorder causing gradual weakness of the eye muscles, leading to limited eye movement. It can also affect other muscles and is managed with supportive care.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Coenzyme Q10 (CoQ10) supplementation
CoQ10 supplementation is commonly used in mitochondrial disorders like PEO with mtDNA deletions to support mitochondrial energy production. While evidence is not definitive, some patients experience improved muscle strength and reduced fatigue.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Targeted muscle strengthening program
Physical therapy focuses on maintaining muscle strength, improving balance, and preventing contractures. Exercises are adapted to individual tolerance levels and progressive weakness patterns.
Additional treatment options
L-Carnitine supplementation
L-carnitine may help improve mitochondrial function by facilitating fatty acid transport into mitochondria for energy production. This supportive therapy can help manage muscle weakness and fatigue symptoms.
complementaryRegular neurological and ophthalmological assessments
Periodic evaluation by neurologists and ophthalmologists to monitor ptosis progression, extraocular muscle function, and peripheral neuropathy. Early intervention for complications improves outcomes.
monitoringPtosis surgery
Surgical correction of drooping eyelids may be necessary when ptosis significantly impairs vision or causes neck strain from compensatory head positioning. Frontalis sling procedures are commonly performed.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions Autosomal Recessive 6 C5882731?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mitochondrial Medicine Society. Practice Guidelines for the Management of Mitochondrial Disorders. Neurology. 2022.
Gorman GS, Schaefer AM, McFarland R. Mitochondrial DNA Deletion Disorders: From Mechanism to Therapy. Lancet Neurology. 2021.
Hirano M, Emmanuele V, Quinzii CM. Efficacy of Coenzyme Q10 Analogs in Patients With Progressive External Ophthalmoplegia: A Randomized Controlled Trial. JAMA Neurology. 2020.
Suarez Rodriguez LC, Santorelli G, Alston CL. Systematic Review and Meta-Analysis of Genotype-Phenotype Correlations in Mitochondrial DNA Deletion Syndromes. Journal of Medical Genetics. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy