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Kearns-Sayre Syndrome

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)
Also Known As:
Kearn-Sayre Mitochondrial Cytopathy; Kearns Sayre Syndrome; Kearns' Syndrome; Kearns-Sayre-Shy-Daroff Syndrome; Oculocraniosomatic Syndrome; Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy; Cytopathy, Kearn-Sayre Mitochondrial; Kearn Sayre Mitochondrial Cytopathy; Kearn Syndrome; Kearns Sayre Shy Daroff Syndrome; Mitochondrial Cytopathy, Kearn-Sayre; Oculocraniosomatic Syndromes; Ophthalmoplegia Plus Syndromes; Sayre Syndrome, Kearns; Syndrome, Kearns; Syndrome, Kearns Sayre; Syndrome, Kearns'; Syndrome, Kearns-Sayre; Syndrome, Kearns-Sayre-Shy-Daroff; Syndrome, Oculocraniosomatic; Syndrome, Ophthalmoplegia Plus; Kearns Syndrome
Networked: 279 relevant articles (3 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
2. Mitochondrial Myopathies (Mitochondrial Myopathy)
3. Ataxia (Dyssynergia)
4. Retinitis Pigmentosa (Pigmentary Retinopathy)
5. Lactic Acidosis

Experts

1. Berio, A: 7 articles (05/2013 - 01/2000)
2. Piazzi, A: 7 articles (05/2013 - 01/2000)
3. DiMauro, Salvatore: 6 articles (04/2012 - 09/2002)
4. Montoya, Julio: 5 articles (01/2014 - 02/2006)
5. Ruiz-Pesini, Eduardo: 4 articles (01/2014 - 08/2010)
6. Artuch, Rafael: 4 articles (01/2014 - 02/2006)
7. Bonilla, Eduardo: 4 articles (04/2012 - 09/2002)
8. Schröder, R: 4 articles (09/2005 - 02/2000)
9. Taylor, Robert W: 3 articles (02/2014 - 08/2004)
10. Finsterer, J: 3 articles (07/2012 - 10/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Kearns-Sayre Syndrome:
1. coenzyme Q10 (CoQ10)IBA
2. UbiquinoneIBA
3. AcidsIBA
4. Neuropathy ataxia and retinis pigmentosaIBA
5. Mitochondrial DNA (mtDNA)IBA
6. DNA (Deoxyribonucleic Acid)IBA
7. Electron Transport Complex IV (Cytochrome c Oxidase)IBA
8. Leu Transfer RNAIBA
9. Pyruvic Acid (Pyruvate)IBA
10. EnzymesIBA

Therapies and Procedures

1. Cochlear Implantation
2. Heart Transplantation (Grafting, Heart)
3. Local Anesthesia
4. Anesthesia
5. Defibrillators (Defibrillator)