/ceroid lipofuscinosis, neuronal, 6A

ceroid lipofuscinosis, neuronal, 6A

Rare Disease

MONDO:0011144

Also Known As

CLN6CLN6 late infantile neuronal ceroid lipofuscinosisCLN6Aceroid lipofuscinosis, neuronal, type 6late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6neuronal ceroid lipofuscinosis 6neuronal ceroid lipofuscinosis 6 variable age of onsetneuronal ceroid lipofuscinosis type 6neuronal ceroid lipofuscinosis, late infantile, variantvLINCLCLN6 diseaseCLN6 disease, adult Kufs type A (subtype)CLN6 disease, late infantile (subtype)ceroid lipofuscinosis, neuronal, 6ceroid lipofuscinosis, neuronal, 6, variable age at onsetneuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant

Definition

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 (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.