Diseases Studied
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.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Leigh Syndrome
Leigh Syndrome
Alternative Names: Infantile or Juvenile Subacute Necrotizing Encephalopathy; Subacute Necrotizing Encephalomyelopathy
Disease Category: Mitochondrial Disorders
A rare disorder characterized by severe brain damage in the basal ganglia (regions of the brain that regulate movements), brain stem (region of the lower brain that sends signals to and from the body) or both. Eighty percent of mutations occur in the genetic material in cell nuclei, while 20% occur in DNA within mitochondria (specialized cell structures that produce energy). Symptoms and signs manifest in infancy, including psychomotor regression (loss of mental and motor skills), dysphagia (difficulty swallowing), feeding and growth problems, seizures, hypotonia (low muscle tone), diarrhea, vomiting, involuntary muscle movements, ataxia (lack of coordination), peripheral neuropathy (sensory loss and muscle weakness of the extremities), lactic acidosis (high blood lactate levels), hypertrophic cardiomyopathy (heart muscle thickening), and respiratory failure.
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.