Causes
A rare mitochondrial disorder known as Kelns-Sayre Syndrome (KSS) is caused by deletions of mitochondrial DNA (mtDNA). Mutations in mitochondrial DNA impair energy metabolism in cells. As a result of new mutations in the mitochondrial DNA, KSS typically occurs sporadically, not inherited.
Symptoms
Symptoms of Kearns-Sayre Syndrome usually appear before the age of 20 and can vary widely.
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It results in drooping eyelids (ptosis) and difficulty moving the eyes due to weakness of the eye muscles.
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Degeneration of the retina causes progressive vision loss and night blindness in patients with Retinitis Pigmentosa.
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A heart block can lead to arrhythmias or heart failure due to abnormal conduction.
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Exercise intolerance and generalized muscle weakness.
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Sensorineural hearing loss.
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Coordination and balance problems are associated with ataxia.
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Diabetes mellitus, growth hormone deficiency, and other hormonal imbalances are endocrine disorders.
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Issues related to the central nervous system include cognitive decline, seizures, and stroke-like episodes.
Diagnosis
Kearns-Sayre Syndrome is diagnosed through a combination of clinical examinations and specialized tests:
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Evaluation of characteristic symptoms such as PEO, retinitis pigmentosa, and heart block.
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The electrocardiogram (ECG) is used to detect heart block and other cardiac abnormalities.
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Eye movements and retinal health are evaluated during an ophthalmological examination.
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A muscle biopsy identifies ragged-red fibers, a hallmark of mitochondrial disorders.
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Testing for mutations or deletions of mtDNA.
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MRI or CT scans are used to detect abnormalities in the brain.
Treatment
Kearns-Sayre Syndrome is treated symptomatically and supportively, addressing its various manifestations:
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Heart Care: Regular monitoring with ECGs and the possibility of using pacemakers to prevent sudden cardiac arrests.
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Managing progressive vision loss with regular eye exams and visual aids.
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The purpose of hearing aids is to improve communication and address hearing loss.
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Diabetes and growth hormone deficiency are treated with hormone replacement therapy.
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The purpose of physical therapy is to maintain muscle strength and improve mobility.
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The purpose of occupational therapy is to assist with daily activities and improve quality of life.
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Supplements and antioxidants to support mitochondrial function, though their effectiveness is still being studied.
Prevention
Genetic counseling is recommended for families with a history of mitochondrial disorders to understand the potential risks and reproductive options associated with Kearns-Sayre Syndrome.
Conclusion
A mitochondrial disorder caused by deletions in mitochondrial DNA, Kelns-Sayre Syndrome causes progressive external ophthalmoplegia, retinitis pigmentosa, heart block, muscle weakness, and endocrine disorders, among other symptoms. Clinical evaluations, genetic testing, and specialized imaging are used to diagnose this disease. Through cardiac care, vision and hearing support, endocrine management, and various therapies, symptoms are managed and quality of life is improved. Kearns-Sayre Syndrome cannot be prevented, but genetic counseling can provide valuable information to affected families. An early diagnosis and comprehensive treatment can reduce the severity of the disease.
