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.

MedIndia

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.

Source: Documento sin título

Source: ResearchGate

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:

Cerebral folate deficiency
Hereditary Hypoparathyroidism (underactive parathyroid gland) which can lead to low levels of calcium in the blood and high phosphate in the blood
Hypogonadism
Diabetes mellitus

This condition may show similar symptoms to:

Detailed Information

Please copy and paste any key words from the title: Kearns-Sayre Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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