Kearns-Sayre Syndrome - Medtick
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Kearns-Sayre Syndrome

What is it?

Kearns-sayre syndrome is characterized by isolated involvement of the muscles controlling the eyelid movement and those controlling eye movement.

  • Bilateral (both eyes) pigmentary retinopathy (eye damage)  and cardiac conduction abnormalities (problem with heartbeat) are also present along with other disorders (muscle weakness kidneys).
  • This condition can occur suddenly.

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Cause

  • Family history
  • Genetic disease and/or defect caused by mutations in a particular type of DNA: mitochondrial DNA (the energy source) in all our cells, they help to turn energy from our food.
  • This causes problems because the proteins to help with our metabolism normally manufactured using the DNA code can’t be made.

  • Children receive all of their mitochondria and mitochondrial DNA from their mothers. Unlike other types of genes, mitochondrial genes are passed only from mothers to children—never from fathers to their children. So a mother with KSS might pass it on to her children. However, because of the way mitochondrial DNA comes from a mother, her children might not be affected at all, might be only mildly affected, or might be severely affected. Both boys and girls can inherit the condition.

Symptoms

  • Drooping or falling eyelids?
  • Difficulty in opening the eyelids?
  • Pigmentation of retina?
  • Moderate night blindness?
  • Cardiac abnormalities (problems with heartbeat)?
  • Balance and dizziness problems?
  • Reduced exercise intolerance?
  • Slow heartbeat?

Rarely occurring symptoms:

  • Weakness of facial, throat, trunk and extremity muscles?
  • Hearing loss?
  • Small stature?
  • Poor muscle coordination?

Complications /Information to beware of/General tips:

Medical Emergency Condition

Do not wait, phone for an ambulance

This condition has been associated with:

This condition may show similar symptoms to:

Detailed Information

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