What does Kearns-Sayre syndrome do?

What does Kearns-Sayre syndrome do?

People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis ).

Is Kearns-Sayre syndrome fatal?

KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients.

What are the causes of Kearns-Sayre syndrome?

Kearns-Sayre syndrome is caused by defects in mitochondria , which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. This process is called oxidative phosphorylation.

Who found Kearns-Sayre syndrome?

History. The triad of CPEO, bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by Thomas P. Kearns (1922-2011), MD., and George Pomeroy Sayre (1911-1992), MD.

How is a person’s life is affected by mitochondrial disease?

The parts of the body that tend to be most affected are those that need the most energy, such as the heart, brain, muscles and gastrointestinal tract. Symptoms can range from fatigue and exercise intolerance to hearing loss, seizures, strokes, heart failure, diabetes and kidney failure.

What are the symptoms of mitochondrial myopathy?

The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures.

How is Kearns Sayre syndrome treated?

Treatment of KSS is supportive. Regular follow-up with a cardiologist is recommended. In those with high-grade heart block, a permanent pacemaker/implantable cardioverter-defibrillator device may be suggested and improves the prognosis. Hearing aids may be given to those with sensorineural deafness.

How do you test for KSS?

Such specialized tests may include an electrocardiogram to detect the presence and evaluate the severity of heart block, blood and spinal fluid lactic acid levels, a muscle biopsy to demonstrate the presence of characteristic abnormalities in muscle tissue (ragged-red fibers), and/or a spinal tap to determine whether …

Is Kearns Sayre syndrome recessive or dominant?

Autosomal dominant Kearns-Sayre syndrome.

How is KSS diagnosed?

Diagnosis of KSS relies on physical exam, medical history, and laboratory tests. The eye exam especially is critically important. For example, in pigmentary retinopathy, the retina has a streaked and speckled appearance on an eye exam.

Can you live a long life with mitochondrial disease?

A small study in children with mitochondrial disease examined the patient records of 221 children with mitochondrial disease. Of these, 14% died three to nine years after diagnosis. Five patients lived less than three years, and three patients lived longer than nine years.

Why are mitochondrial diseases or malfunction problematic to human health?

Depending on which cells are affected, people with mitochondrial diseases may have muscle weakness and pain, digestive problems, heart disease, seizures and many other symptoms. These diseases affect both children and adults. Some lead to early death.