Neuronal ceroid lipofuscinosis 5
Other Names for this Disease
- CLN5 disease, adult
- CLN5 disease, juvenile
- CLN5 disease, late infantile (subtype)
- Neuronal ceroid lipofuscinosis Finnish variant
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mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. 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 (
Last updated: 9/2/2015
- Sara E Mole, PhD and Ruth E Williams, MD. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1428/.
- Celia H Chang, MD. Neuronal Ceroid Lipofuscinoses. Medscape Reference. September 2013; http://emedicine.medscape.com/article/1178391-overview.
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