neuronal ceroid lipofuscinosis 5
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 (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.
MONDO:0015674
late infantile neuronal ceroid lipofuscinosis
is_a
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN5
exact
CLN5 disease, adult
related
CLN5 disease, juvenile
related
CLN5 disease, late infantile (subtype)
related
CLN5 neuronal ceroid lipofuscinosis
exact
ceroid lipofuscinosis, neuronal, 5
related
ceroid lipofuscinosis, neuronal, type 5
exact
neuronal ceroid lipofuscinosis Finnish variant
related
neuronal ceroid lipofuscinosis caused by mutation in CLN5
exact
neuronal ceroid lipofuscinosis type 5
exact