/neuronal ceroid lipofuscinosis 5

neuronal ceroid lipofuscinosis 5

Rare Disease

MONDO:0009745

Also Known As

CLN5CLN5 neuronal ceroid lipofuscinosisceroid lipofuscinosis, neuronal, type 5neuronal ceroid lipofuscinosis 5 variable age of onsetneuronal ceroid lipofuscinosis caused by mutation in CLN5neuronal ceroid lipofuscinosis type 5CLN5 diseaseCLN5 disease, adultCLN5 disease, juvenileCLN5 disease, late infantile (subtype)Finnish Vlinclceroid lipofuscinosis, neuronal, 5ceroid lipofuscinosis, neuronal, 5, variable Age at onsetneuronal ceroid lipofuscinosis Finnish variantneuronal ceroid lipofuscinosis, late infantile, Finnish variant

Definition

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.