Disease Information for Kearns-Sayre Ophthalmoplegic Syndrome: Definition

  • A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy (with conduction 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)-----------------------------------

    Kearns Sayre Syndrome; CPEO with Myopathy; CPEO with Ragged-Red Fibers; Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; KSS; Kearns-Sayre Disease;

    Mitochondrial Cytopathy, Kearn-Sayre Type;

    Oculocraniosomatic Syndrome (obsolete); Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy; Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block; Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum); Kearns-Sayre Syndrome belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies; Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies); In these disorders, abnormally high numbers of defective mitochondria are present; In approximately 80 percent of cases of Kearns-Sayre Syndrome, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA)--------- [NORD 2005]-------

    AKA: Bernard-Scholz syndrome; Kearns" syndrome; Kearns-Shy syndrome; Kearns-Sayre-Daroff syndrome; External ophthalmoplegia-retinitis pigmentosa-heart block syndrome; heart block-retinitis pigmentosa-ophthalmoplegia syndrome; oculocraniosomatic disease, oculo-cranio-somatic neuromuscular disease, oculopharingeal muscular dystrophy; ophthalmoplegia-pigmentary retinal degeneration-cardiomyopathy syndrome; ophthalmoplegia-retinal degeneration syndrome; Here is a Syndrome characterised by unilateral or bilateral progressive weakness of muscles of eyelids, up to severe ptosis, pigmentary degeneration of retina, cardiomegaly/cardiomyopathy, and heart failure; Some cases present cerebellar ataxia, progressive paralysis, sensory deafness for high tones, spasticity, mental deficiency, and short stature; Prevalent in females; Onset before 20 years of age

    ---[Whonamedit_com 2005]--------