Definition
Kearns-Sayre syndrome is a mitochondrial disease characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and heart block.
Symptoms
- Progressive external ophthalmoplegia
- Pigmentary retinopathy
- Heart block
- Ataxia
Reasons
mtDNA deletions.
Diagnosis
Muscle biopsy, ECG, genetic testing.
Treatment
Pacemaker, coenzyme Q10.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of heart block, emergency services should be consulted.
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