Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7
Definition
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.
Also known as ceroid lipofuscinosis, neuronal, type 7, CLN7, MFSD8 neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis 7, neuronal ceroid lipofuscinosis caused by mutation in MFSD8, neuronal ceroid lipofuscinosis type 7 — per MONDO