Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 > Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 5
Alternative Names: CLN5
Disease Category: Neuronal Ceroid Lipofuscinoses
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes in the CLN5 gene and is inherited in an autosomal recessive manner.