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 > Familial Bilateral Striatal Necrosis
Familial Bilateral Striatal Necrosis (FBSN)
Alternative Names: Striatal Degeneration Familial (SNDI); Infantile Bilateral Striatal Necrosis (IBSN)
Disease Category: Mitochondrial Disorders
A rare disorder characterized by degeneration of the brain tissue within the striatum, which is the largest component of the basal ganglia (regions of the brain that regulate movements). Symptoms and signs usually manifest in the first 2 years of life in the familial (inherited) form of this disorder, and include involuntary muscle and eye movements, developmental regression (loss of acquired skills), spasticity (muscle rigidity) and myoclonus (muscle rigidity and jerking, respectively), dysphagia (difficulty swallowing), intellectual deficits, ataxia (lack of coordination), and optic nerve atrophy.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.