What is it?

Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions.

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Signs & symptoms

In KSS, eye movements gradually become limited until there is complete immobility, accompanied by drooping eyelids. Pigmented material accumulates abnormally on the membrane lining the eyes. As well as mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, impaired cognitive function, and diabetes, there may be additional symptoms. Seizures are rare. KSS can be associated with several endocrine disorders.


An electrocardiogram to identify heart block and determine its severity, blood and spinal fluid lactic acid levels, a muscle biopsy to examine muscle tissue for characteristic abnormalities (ragged-red fibers), and/or a spinal tap to determine whether there are elevated levels of cerebrospinal fluid (CSF) protein or a deficit of folate (cerebral folate deficiency). It is possible to detect deleted mtDNA in muscle tissue that is not detectable in blood sample by performing a muscle biopsy. In some cases of KSS, the levels of other substances serum creatine kinase, blood lactate, gamma globulin, and/or pyruvate may be elevated in the blood.

Under an electron microscope, biopsy tissue samples may reveal large numbers of abnormal mitochondria in skeletal and eye muscle tissues. It is possible to identify abnormal accumulations of calcium in and/or lesions affecting certain areas of the brain by using a CT scan or tomography. White matter changes or changes similar to Leigh syndrome can also be seen on an MRI of the brain.


Currently, there is no effective treatment for mitochondrial abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS depends on the organs involved. Regular and long-term follow-up with cardiologists is essential. Conduction problems in the heart, such as heart block, can block, can beted with a pacemaker. There may also be consultations with audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. It. Itbe necessary to wear hearing aids. Eye movement limitations are typically not treated. Drugs can be used to treat endocrinology abnormalities.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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