has material basis in germline mutation in CLN5 neuronal ceroid lipofuscinosis 5 https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 https://www.malacards.org/card/ceroid_lipofuscinosis_neuronal_5_2 CLN5 disease, adult neuronal ceroid lipofuscinosis Finnish variant GARD:0001223 DOID:0110728 OMIM:256731 MONDO:0009745 neuronal ceroid lipofuscinosis caused by mutation in CLN5 UMLS:C1850442 MEDGEN:376792 Orphanet:228360 MESH:C575534 neuronal ceroid lipofuscinosis type 5 CLN5 neuronal ceroid lipofuscinosis CLN5 disease, late infantile (subtype) 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. CLN5 ceroid lipofuscinosis, neuronal, type 5 CLN5 disease, juvenile ceroid lipofuscinosis, neuronal, 5 late infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis