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What is Kearns-Sayre Syndrome?

What is Kearns-Sayre Syndrome?

  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • 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)
    Source - Diseases Database

Kearns-Sayre Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Kearns-Sayre Syndrome, or a subtype of Kearns-Sayre Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Kearns-Sayre Syndrome as a "rare disease".
Source - Orphanet

Kearns-Sayre Syndrome: Introduction

Types of Kearns-Sayre Syndrome:

Broader types of Kearns-Sayre Syndrome:

How many people get Kearns-Sayre Syndrome?

Prevalance of Kearns-Sayre Syndrome: rare

Who gets Kearns-Sayre Syndrome?

Patient Profile for Kearns-Sayre Syndrome: Onset is usually before 20

How serious is Kearns-Sayre Syndrome?

Complications of Kearns-Sayre Syndrome: see complications of Kearns-Sayre Syndrome

What causes Kearns-Sayre Syndrome?

Causes of Kearns-Sayre Syndrome: see causes of Kearns-Sayre Syndrome

What are the symptoms of Kearns-Sayre Syndrome?

Symptoms of Kearns-Sayre Syndrome: see symptoms of Kearns-Sayre Syndrome

Complications of Kearns-Sayre Syndrome: see complications of Kearns-Sayre Syndrome

Can anyone else get Kearns-Sayre Syndrome?


Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Kearns-Sayre Syndrome: Testing

Diagnostic testing: see tests for Kearns-Sayre Syndrome.

Misdiagnosis: see misdiagnosis and Kearns-Sayre Syndrome.

How is it treated?

Doctors and Medical Specialists for Kearns-Sayre Syndrome: Medical Geneticist ; see also doctors and medical specialists for Kearns-Sayre Syndrome.
Treatments for Kearns-Sayre Syndrome: see treatments for Kearns-Sayre Syndrome
Research for Kearns-Sayre Syndrome: see research for Kearns-Sayre Syndrome

Organs Affected by Kearns-Sayre Syndrome:

Organs and body systems related to Kearns-Sayre Syndrome include:

Name and Aliases of Kearns-Sayre Syndrome

Main name of condition: Kearns-Sayre Syndrome

Class of Condition for Kearns-Sayre Syndrome: genetic mitochondrial

Other names or spellings for Kearns-Sayre Syndrome:

KSS, CPEO with myopathy, CPEO with ragged-red fibers, chronic progressive external ophthalmoplegia and myopathy, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, Kearn-Sayre type, ophthalmoplegia plus syndrome, ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, Oculocraniosomatic syndrome, Mitochondrial cytopathy, Ophthalmoplegia, progressive external, with ragged red fibers, Chronic progressive external ophthalmoplegia with myopathy

CPEO with myopathy, CPEO with ragged red fibers, Chronic progressive external ophthalmoplegia with myopathy, KSS, Mitochondrial cytopathy, Oculocraniosomatic syndrome, Ophthalmoplegia plus syndrome, Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, Ophthalmoplegia, progressive external, with ragged red fibers, Mitochondrial cytopathy, Oculocraniosomatic syndrome, Ophthalmoplegia plus syndrome, Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, Ophthalmoplegia, progressive external, with ragged red fibers, CPEO with myopathy, CPEO with ragged red fibers, Chronic progressive external ophthalmoplegia with myopathy
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Kearns-Sayre Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Kearns-Sayre Syndrome:

 

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