Kearns-Sayre syndrome is a neuromuscular disorder caused by abnormalities in mitochondrial DNA. Symptoms include limited eye movement, droopy eyelids, muscle weakness, heart problems, hearing loss, and diabetes. While there is no cure, symptoms can be treated individually. The disorder progresses slowly and can occur in anyone, usually before the age of 20.
Kearns-Sayre syndrome, or KSS, is a neuromuscular disorder that usually only affects people under the age of 20. It is also often called oculocraniosomatic neuromuscular disease with ragged red fibers and is usually caused by abnormalities appearing in the DNA of the mitochondria. Some of the more common symptoms include restricted eye movements, drooping eyelids, skeletal muscle weakness, heart block, hearing loss, and diabetes, just to name a few. This disorder typically progresses slowly, and while there is no cure, the symptoms can usually be treated so that they are not as severe. Kearns-Sayre syndrome probably shortens life expectancy, especially when severe heart problems are present, but morbidity usually varies according to the severity of symptoms.
One of the first symptoms of Kearns-Sayre syndrome is usually limited eye movement, which eventually worsens until one or both eyes cannot be moved at all. Ptosis, or droopy eyelids, often occurs, along with pigmentary retinopathy, or pigmentation of the retina that can reduce your ability to see. Other physical symptoms may include short stature, skeletal muscle weakness, and ataxia, which is a condition characterized by difficulty coordinating movements.
There are other symptoms of Kearns-Sayre syndrome that are not as obvious, as they involve organs. For example, heart problems such as congestive heart failure may appear, as well as bradycardia, also called heart block. Thus, the heart may beat too slowly, often requiring medication or a pacemaker to help improve both life expectancy and the patient’s quality of life. Other symptoms that may not be apparent to others include dementia, diabetes, menstrual irregularities, occasional seizures, and deafness. While there is no cure for Kearns-Sayre syndrome, most doctors can treat each symptom individually.
The onset of this disorder is usually slow, as symptoms may start on one side of the body and then progress to the other side. Most cases appear in patients before they reach the age of 20, but this is the only obvious pattern, as this disorder can occur in anyone, regardless of sex or gender. It is usually a spontaneous mutation, although some cases are inherited, so there is no known way to prevent this condition. This disorder can result from the deletion of DNA in mitochondria, which are tiny rod-like organelles that exist in each of the body’s eukaryotic cells. Their job is to supply each cell with energy, but they also control cell growth, cell death, and the cell cycle in general, which is why mitochondrial disorders often affect so many parts of the body.
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