/neuronal ceroid lipofuscinosis 7

neuronal ceroid lipofuscinosis 7

Rare Disease

MONDO:0012588

Also Known As

CLN7MFSD8 neuronal ceroid lipofuscinosisceroid lipofuscinosis, neuronal, type 7neuronal ceroid lipofuscinosis 7neuronal ceroid lipofuscinosis caused by mutation in MFSD8neuronal ceroid lipofuscinosis type 7CLN7 diseaseCLN7 disease, late infantileceroid lipofuscinosis, neuronal, 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.