About Kearns Sayre Syndrome

What is Kearns Sayre Syndrome?

Kearns-Sayre Syndrome (KSS) is a rare, inherited disorder that affects the nervous system. It is characterized by progressive vision loss, muscle weakness, and heart problems. It is caused by a mutation in the mitochondrial DNA, which is passed down from the mother. Symptoms usually begin in childhood and can include vision loss, muscle weakness, heart problems, hearing loss, and learning disabilities. Treatment typically includes medications, physical therapy, and lifestyle changes.

What are the symptoms of Kearns Sayre Syndrome?

The most common symptoms of Kearns-Sayre Syndrome (KSS) include:

-Progressive Vision loss (usually starting in the teens)

-Heart block (abnormal heart rhythm)

-Muscle weakness

-Loss of coordination

-Drooping eyelids (ptosis)

-Hearing loss

-Lack of energy (lethargy)

-Difficulty swallowing

-Loss of reflexes

-Difficulty speaking

-Difficulty walking

-Developmental delays

-Seizures

-Abnormal facial features

What are the causes of Kearns Sayre Syndrome?

Kearns Sayre Syndrome is caused by a mutation in the mitochondrial DNA. This mutation is usually inherited from the mother, but can also occur spontaneously. It is most commonly caused by a large deletion of mitochondrial DNA, but can also be caused by other mutations.

What are the treatments for Kearns Sayre Syndrome?

The treatments for Kearns Sayre Syndrome vary depending on the individual and the severity of the condition. Generally, treatments may include:

1. Medications to help control symptoms such as seizures, heart problems, and vision problems.

2. Surgery to remove the damaged mitochondria in the eye.

3. Physical therapy to help with muscle weakness and coordination.

4. Dietary changes to help with energy levels and nutrition.

5. Vitamin and mineral supplements to help with energy levels and nutrition.

6. Genetic counseling to help families understand the condition and plan for the future.

What are the risk factors for Kearns Sayre Syndrome?

1. Mitochondrial DNA mutations
2. Family history of Kearns-Sayre Syndrome
3. Age (usually diagnosed before the age of 20)
4. Exposure to certain toxins or drugs
5. Radiation exposure
6. Certain infections, such as mumps or measles

Is there a cure/medications for Kearns Sayre Syndrome?

There is no cure for Kearns-Sayre Syndrome, but medications can be used to manage the symptoms. These medications may include anticonvulsants, muscle relaxants, and medications to treat heart problems. Physical therapy, occupational therapy, and speech therapy may also be recommended to help manage the symptoms.