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PAFMJ. 2015; 65(0): S275-S278


KEARNS–SAYRE SYNDROME: REPORT OF TWO CASES AND REVIEW OF LITERATURE

Muhammad Ikram, Saeed Bin Ayaz, Zaheer Ahmed Gill, Syed Naveed Mumtaz.

Abstract
Kearns–Sayre syndrome is a rare disease entity caused by mutations in the mitochondrial DNA and the patients may have reduced visual activity, hearing loss, dysphagia, ophthalmoplegia and ptosis along with symmetrical proximal muscle weakness. There is no cure and the treatment is supportive with regular assessment for cardiac conduction, hearing, vision and endocrinopathies. Genetic counselling is important. Therapeutic exercises, surgery for ptosis, pharyngeal stenosis and cochlear implants are effective. Two such cases are reported here

Key words: Dysphagia, Genetic disorder, Kearns–Sayre syndrome.



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