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Mitochondrial Chronic Progressive External Ophthalmoplegia.

Ali Ali1, Ali Esmaeil1, Raed Behbehani1

  • 1Neuro-Ophthalmology Unit, Ibn Sina Hospital, Al-Bahar Ophthalmology Center, Kuwait City 70035, Kuwait.

Brain Sciences
|February 23, 2024
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Summary

Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a common sign of mitochondrial encephalomyopathies. Accurate diagnosis relies on genetic sequencing, with management focusing on symptom relief and lifestyle changes.

Keywords:
CPEOchronic progressive external ophthalmoplegiamitochondrial diseases

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Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder often indicating underlying mitochondrial diseases.
  • This review focuses on mitochondrial CPEO encephalomyopathies to improve recognition and diagnosis.

Purpose of the Study:

  • To provide an overview of mitochondrial CPEO encephalomyopathies.
  • To enhance accurate recognition, diagnosis, and management of these conditions.

Main Methods:

  • A selective review of publications and guidelines from PubMed was conducted.
  • Prioritized were randomized trials, Cochrane reviews, and meta-analyses.

Main Results:

  • CPEO is a frequent manifestation of mitochondrial encephalomyopathies, stemming from mitochondrial or nuclear DNA alterations.
  • Genetic sequencing is the definitive diagnostic method, supported by non-invasive markers like FGF-21 and GDF-15.
  • Muscle biopsy may be necessary if initial diagnostic tests are inconclusive.

Conclusions:

  • Accurate diagnosis and management of mitochondrial CPEO require understanding its diverse presentations and genetic underpinnings.
  • Current management involves lifestyle modifications, supplementation, and symptomatic treatment (e.g., ptosis repair).
  • Ongoing clinical trials aim to develop effective therapies for mitochondrial encephalomyopathies.