{"orpha":228343,"name":"CLN4 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCL4","Neuronal ceroid lipofuscinosis type 4"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228343/","orphanet_url":"https://www.orpha.net/en/disease/detail/228343","names":{"fr":{"name":"Maladie CLN4","synonyms":["Céroïde lipofuscinose neuronale de type 4","NCL4"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par des crises tonico-cloniques et myocloniques généralisées et progressives à l'âge adulte (entre 20 et 30&nbsp;ans), un déclin du langage, une démence et une ataxie. Certains patients peuvent également présenter un syndrome parkinsonien. Il n'existe généralement pas de déficience visuelle. Il s'agit de la seule forme de céroïde lipofuscinose à transmission dominante."},"de":{"name":"CLN4-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 4","NCL4"]},"es":{"name":"Enfermedad CLN4","synonyms":["Lipofuscinosis ceroidea neuronal tipo 4","NCL4"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por crisis tónico-clónicas y mioclónicas generalizadas y progresivas de inicio en la edad adulta (entre los 20 y los 30 años), deterioro del habla, demencia y ataxia. Algunos pacientes también pueden presentar parkinsonismo. No suele asociar discapacidad visual. Esta es la única forma de lipofuscinosis ceroidea de herencia dominante."},"it":{"name":"Malattia CLN4","synonyms":["Malattia CLN4B","Ceroidolipofuscinosi neuronale tipo 4","Malattia CLN4","Malattia di Parry"]},"nl":{"name":"CLN4-ziekte","synonyms":["NCL4","Neuronale ceroïdlipofuscinose type 4"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door in de volwassenheid aanvangende (20 tot begin 30 jaar) progressieve gegeneraliseerde tonisch-clonische en myoclonische insulten, achteruitgang van de spraak, dementie en ataxie. Sommige patiënten vertonen mogelijk ook parkinsonisme. Verlies van gezichtsvermogen is meestal niet aanwezig. Dit is de enige vorm van ceroïdlipofuscinose die dominant wordt overgeërfd."},"pt":{"name":"Doença CLN4","synonyms":["Lipofuscinose ceroide neuronal tipo 4"]},"pl":{"name":"Choroba CLN4","synonyms":["NCL4","Neuronal ceroid lipofuscinosis type 4"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, ujawniająca się w wieku dorosłym (20-30 rż) i charakteryzująca postępującymi napadami toniczno-klonicznymi oraz mioklonicznymi, pogorszeniem mowy, otępieniem i ataksją. U niektórych pacjentów mogą występować objawy parkinsonizmu. Zazwyczaj nie występują zaburzenia widzenia. Jest to jedyna postać ceroidolipofuscynozy neuronalnej o dziedziczeniu dominującym."},"cs":{"name":"Neuronální ceroidlipofuscinosa, typ 4B","synonyms":["Onemocnění CLN4"]},"uk":{"name":"Хвороба CLN4","synonyms":["Хвороба CLN4B","Нейрональний цероїдний ліпофусциноз типу 4","Хвороба Паррі"]},"zh":{"name":"神经元蜡样脂褐质沉积症4B型"},"tr":{"name":"CLN4B hastalığı"}},"xrefs":[{"source":"OMIM","code":"162350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"8083","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834207","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","classifications":[150,156,181,189]},{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNAJC5","name":"DnaJ heat shock protein family (Hsp40) member C5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27629553[PMID]","hgnc":"16235","ensembl":"ENSG00000101152","omim":"611203","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"11489285[PMID]_12112194[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11489285[PMID]_12112194[PMID]_ORPHANET"}],"phenotypes":null}