Neuronal ceroid lipofuscinosis 6
Other Names for this Disease
- Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant
- CLN6 disease, late infantile (subtype)
- CLN6 disease, adult Kufs type A (subtype)
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mutations) in the CLN6 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 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 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 developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-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. December 14, 2015; http://emedicine.medscape.com/article/1178391-overview.
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