What does Kearns-Sayre syndrome do?
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects multiple parts of the body, including the muscles, eyes, heart, and brain. It is caused by mutations in mitochondrial DNA, which is responsible for producing energy in the cells.
Symptoms of KSS can include:
* Muscle weakness and wasting
* Vision problems, such as pigmentary retinopathy and ptosis (drooping eyelids)
* Heart problems, such as cardiomyopathy and arrhythmias
* Hearing loss
* Diabetes
* Short stature
* Intellectual disability
* Seizures
* Movement disorders, such as ataxia and chorea
KSS is a progressive disorder, meaning that symptoms will worsen over time. There is no cure for KSS, but treatment can help to manage the symptoms and improve quality of life. Treatment options may include physical therapy, occupational therapy, speech therapy, vision aids, hearing aids, and medications to manage heart problems, diabetes, and seizures.
KSS is a rare disease, but it is important to be aware of the symptoms so that you can seek medical attention if you think you or someone you know may be affected.
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