Kearns-Sayre Syndrome

Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20.

Contents

Signs and Symptoms

KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.

Causes

KSS 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. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body.

Treatment

Treatment for KSS is generally symptomatic and supportive. Cardiac abnormalities may be treated with various cardiac drugs or a pacemaker.

Clinical Trials

Syndrome%22 Select this link to view a list of studies currently seeking patients

Research

The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.

Expected Outcome

The prognosis for individuals with KSS varies depending on the severity of symptoms. KSS is a slowly progressive disorder.

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