ceroid lipofuscinosis, neuronal, 6A
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.
MONDO:0015674
late infantile neuronal ceroid lipofuscinosis
is_a
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN6
exact
CLN6 disease, adult Kufs type A (subtype)
related
CLN6 disease, late infantile (subtype)
related
CLN6 late infantile neuronal ceroid lipofuscinosis
exact
CLN6A
exact
ceroid lipofuscinosis, neuronal, 6
related
ceroid lipofuscinosis, neuronal, type 6
exact
late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6
exact
neuronal ceroid lipofuscinosis type 6
exact
neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant
related
neuronal ceroid lipofuscinosis, late infantile, variant
exact
vLINCL
exact