Kearns-Sayre Syndrome D007625

Related MeSH Hierarchy (10)

Diseases [C] » Eye Diseases [C11] » Retinal Diseases » Retinal Degeneration » Retinal Dystrophies » Retinitis Pigmentosa » Kearns-Sayre Syndrome

Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Cardiomyopathies » Kearns-Sayre Syndrome

Description

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)   MeSH

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UMLS Data


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