The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Kearns-Sayre Syndrome
Kearns-Sayre Syndrome (KSS)
Alternative Names: Kearns-Sayre Mitochondrial Cytopathy
Disease Category: Mitochondrial Disorders
A rare disorder affecting nerves and muscles caused by genetic mutations affecting the mitochondria (specialized cell structures that produce energy). It is characterized by progressive loss of eye movement until complete paralysis (absence of movement), ptosis (eyelid drooping), and abnormal pigmentation of the membranous lining of the eyes. Other symptoms include cognitive deficits, ataxia (lack of coordination), mild skeletal muscle weakness, cardiac conduction block (defective electrical signaling in the heart), hearing loss, diabetes, and stunted growth. Most patients with this disease have a sporadic mutation in the DNA of the mitochondria (specialized cell structures that produce energy).
Research groups studying this disease
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.