Understanding Kearns-Sayre syndrome: Causes, Symptoms, and Management

Sign In

All Posts Conditions Community About

Explore Over 11,000+ Conditions, Medications, and Symptoms.

Get a personalized feed by signing up for free.

All Conditions

Kearns-Sayre syndrome

by Alike Medical Team ∙ Updated on June 13, 2023

General

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.

0 people with Kearns-Sayre syndrome

Learn from others who are experiencing Kearns-Sayre syndrome.

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.

Diagnosis

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.

Treatment

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.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

Alike Wisdom

Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences

Alike is a transformative platform that goes beyond just bringing together patients; it meticulously connects individuals based on multiple critical factors, such as age, gender, comorbidities, medications, diet, and more, fostering a community of knowledge, support and empathy.

About Alike Wisdom Blog FAQ Editorial Team All Conditions All Posts All Communities Support

Your Privacy Stories Community Guidelines Terms of Use Privacy Policy Helplines Contact Us Group Chats Guidelines Moderation Process