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 > Encephalomyopathy
Disease Category: Mitochondrial Disorders
A term indicating severe brain disease combined with muscle weakness. "Encephalo" pertains to the brain, while "myo" pertains to muscle. This disorder characterizes a group of mitochondrial disorders. When the genetic material within mitochondria (specialized cell structures that produce energy) is mutated, it results in disruption of the oxidative phosphorylation pathway through which the body produces energy. The brain is the organ most susceptible to mitochondrial dysfunction, causing neurological dysfunction such as cognitive impairment, seizures, and movement disorders.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)
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.