neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 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
CLN7
exact
CLN7 disease
related
CLN7 disease, late infantile
related
MFSD8 neuronal ceroid lipofuscinosis
exact
ceroid lipofuscinosis, neuronal, 7
related
ceroid lipofuscinosis, neuronal, type 7
exact
neuronal ceroid lipofuscinosis 7
exact
neuronal ceroid lipofuscinosis caused by mutation in MFSD8
exact
neuronal ceroid lipofuscinosis type 7
exact