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Kearns-Sayre Syndrome

In this rare condition, mutations in someone’s DNA result in diseased mitochondria, the structures within cells that supply them with energy. This disruption typically causes problems with the eyes but may also extend to other parts of the body, resulting in complications including cardiac complications, compromised cognitive function, deafness and kidney problems. Signs of this condition usually appear by age 20.

  • Symptoms

    • Chronic progressive external ophthalmoplegia (CPEO), which includes weakened or paralyzed muscles that control the eyes, altered eye movement and eyelids that droop
    • Pigmentary retinopathy, in which the light-sensing retina is damaged and appears speckled or streaked and vision may become impaired
    • Complications with the electric signals that are responsible for heartbeat
    • Difficulty with balance, coordination and gait
    • Unusually high amount of protein in fluid surrounding the brain and spinal cord
    • Weakened muscles in the arms and legs
    • Deafness
    • Kidney complications
    • Cognitive problems
  • Prevention

    Kearnes-Sayre syndrome is a genetic condition, and there is currently no known way to prevent it.

  • Risk Factors

    Mutations that occur after conception are responsible for Kearns-Sayre syndrome. These genetic irregularities of the mitochondria may be passed on from females, not males, because egg cells (rather than sperm cells) contribute to mitochondria in a forming embryo.

  • Diagnosis

    • Clinical evaluation. The provider will review your medical history and symptoms.
    • Specialized tests. Tests for Kearns-Sayre syndrome may include an electrocardiogram of the heart, evaluation of lactic acid levels in the blood and spinal fluid, biopsy of the muscles to identify abnormalities in the muscle tissue (known as ragged-red) fibers, and spinal tap to measure protein in the cerebrospinal fluid.
  • Treatment

    A cure does not exist for Kearns-Sayre syndrome, but symptoms can be addressed with treatments such as:

    • Cardiac pacemakers to keep the heart in rhythm
    • Eyelid slings to help keep eyes open
    • Cochlear implants to improve hearing
    • Hormone replacement
    • Supplementation of folic acid to enhance cerebrospinal fluid
    • Occupational and physical therapy to help with strength, coordination and balance
    • Surgery to address visual challenges

    Hormone replacement therapy Investigational therapies are also being studied to address Kearns-Sayre syndrome. One of these is the “mito cocktail,” which consists of vitamins and supplements intended to enhance mitochondrial enzymes and offer antioxidant therapy.

  • Follow-up Care

    Patients with this condition will continue to see their physician for follow-up care, which may include treatments for symptoms related to Kearns-Sayre syndrome.

  • Why Choose UK HealthCare for Neuromuscular Disorders?

    If you or a loved one is living with a neuromuscular disorder, neuromuscular doctors with Kentucky Neuroscience Institute can offer the latest and most sophisticated care options. UK HealthCare’s ALS Multidisciplinary Clinic earned accreditation as a Certified Treatment Center of Excellence from the ALS Association. This honor is awarded to facilities that demonstrate competency meeting the clinical care and treatment standards set forth by the ALS Association. These facilities must also take part in ALS research and a comprehensive site review.

    Additionally, the Kentucky Neuroscience Institute is ranked 44th in the country by U.S. News & World Report, and our physicians are regularly named to the Best Doctors in America List.