{"orpha":314632,"name":"CLN12 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATP13A2-related juvenile neuronal ceroid lipofuscinosis","Juvenile parkinsonism-neuronal ceroid lipofuscinosis","NCL12","Neuronal ceroid lipofuscinosis type 12"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by juvenile-onset (11-13&nbsp;years) ataxia, unsteady gait, severe myoclonus and mood disturbance, progressing with clear extrapyramidal symptoms (including akinesia, rigidity and dysarthric speech) in 5&nbsp;years following the diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314632/","orphanet_url":"https://www.orpha.net/en/disease/detail/314632","names":{"fr":{"name":"Maladie CLN12","synonyms":["Céroïde lipofuscinose neuronale de type 12","Céroïde-lipofuscinose neuronale juvénile associée à ATP13A2","NCL12","Parkinsonisme juvénile-céroïde-lipofuscinose neuronale"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par une ataxie d'apparition juvénile (entre l'âge de 11 et 13&nbsp;ans), une démarche instable, une myoclonie sévère et des troubles de l'humeur, évoluant vers des symptômes extrapyramidaux manifestes (y compris akinésie, rigidité et discours dysarthrique) dans les 5&nbsp;ans suivant le diagnostic."},"de":{"name":"CLN12-Krankheit","synonyms":["ATP13A2-assoziierte juvenile neuronale Ceroid-Lipofuszinose","Ceroid-Lipofuszinose, neuronale, Typ 12","Juveniler Parkinsonismus-Neuronale Ceroid-Lipofuszinose","NCL12"],"definition":"Eine seltene neuronale Ceroid-Lipofuszinose, die durch Ataxie im Jugendalter (11-13 Jahre), unsicheren Gang, schweren Myoklonus und Stimmungsschwankungen gekennzeichnet ist und 5 Jahre nach der Diagnose zu deutlichen extrapyramidalen Symptomen (einschließlich Akinese, Rigidität und dysarthrischer Sprache) führt."},"es":{"name":"Enfermedad CLN12","synonyms":["Lipofuscinosis ceroidea neuronal juvenil asociada a ATP13A2","Lipofuscinosis ceroidea neuronal tipo 12","Lipofuscinosis ceroidea neuronal-parkinsonismo juvenil","NCL12"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por ataxia de inicio juvenil (11-13 años), marcha inestable, mioclonías graves y alteraciones del estado de ánimo, que progresa con síntomas extrapiramidales claros (incluyendo acinesia, rigidez y habla disártrica) en los 5 años siguientes al diagnóstico."},"it":{"name":"Malattia CLN12","synonyms":["Ceroidolipofuscinosi neuronale-Parkinsonismo giovanile","Ceroidolipofuscinosi neuronale tipo 12","Ceroidolipofuscinosi neuronale giovanile correlata ad ATP13A2","Ceroidolipofuscinosi neuronale correlata a ATP13A2","Parkinsonismo giovanile-ceroidolipofuscinosi neuronale"],"definition":"Si tratta di una ceroidolipofuscinosi neuronale rara, caratterizzata da atassia spinocerebellare progressiva ad esordio giovanile, sindrome bulbare (che si manifesta con disartria, disfagia e disfonia), segni piramidali ed extrapiramidali (mioclonie, amiotrofia, andatura instabile, acinesia, rigidità, disartria) e deterioramento cognitivo. La biopsia muscolare post-mortem evidenzia corpi autofluorescenti e depositi di lipofuscina nel cervello e, occasionalmente, nella retina."},"nl":{"name":"CLN12-ziekte","synonyms":["ATP13A2-gerelateerde juveniele neuronale ceroïdlipofuscinose","Juveniel parkinsonisme - neuronale ceroïdlipofuscinose","NCL12","Neuronale ceroïdlipofuscinose type 12"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door juveniel (11-13 jaar) optredende ataxie, onstabiele gang, ernstige myoclonus en stemmingsstoornis, met progressie met duidelijke extrapiramidale symptomen (waaronder akinesie, rigiditeit en dysartrie) binnen vijf jaar na de diagnose."},"pt":{"name":"Doença CLN12","synonyms":["Lipofuscinose ceróide neuronal juvenil ATP13A2-relacionada","Lipofuscinose ceróide neuronal tipo 12","NCL12","Parkinsonismo juvenil-lipofuscinose ceroide neuronal"]},"pl":{"name":"Choroba CLN12","synonyms":["ATP13A2-related juvenile neuronal ceroid lipofuscinosis","Juvenile parkinsonism-neuronal ceroid lipofuscinosis","NCL12","Neuronal ceroid lipofuscinosis type 12"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, ujawniająca się w okresie młodzieńczym (11–13 lat) i charakteryzująca ataksją, chwiejnością chodu, ciężką mioklonią oraz zaburzeniami nastroju, do których w ciągu około 5 lat od rozpoznania dołączają wyraźne objawy pozapiramidowe, w tym akinezja, sztywność mięśni oraz dyzartria."},"cs":{"name":"Parkinsonismus způsobený deficitem ATP13A2","synonyms":["Nemoc CLN12","Neuronální ceroidní lipofuscinóza, typ 12"]},"uk":{"name":"Хвороба CLN12","synonyms":["Ювенільний нейрональний цероїдний ліпофусциноз, повязаний з ATP13A2","Ювенільний паркінсонізм - нейрональний цероїдний ліпофусциноз","Нейрональний цероїдний ліпофусциноз типу 12"],"definition":"A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem."},"zh":{"name":"ATP13A2基因相关性幼年神经元蜡样脂褐质贮积症","synonyms":["幼年帕金森病-神经元蜡样脂褐质贮积症"],"definition":"一种罕见的神经元性蜡样脂肪增多症，其特征是青少年发病的进行性脊髓小脑共济失调、延髓综合征（表现为构音障碍、吞咽困难和发音困难）、锥体和锥体外系受累（包括肌阵挛、肌萎缩、步态不稳、运动障碍、僵硬，语言障碍）和智力退化。在死后，肌肉活检显示脑内有自体荧光小体和脂褐素沉积，偶尔在视网膜上。"},"tr":{"name":"ATP13A2 -ilişkili jüvenil nöronal seroid lipofuksinoz","synonyms":["CLN12 hastalığı","Jüvenil parkinsonizm-nöronal seroid lipofuksinoz"]}},"xrefs":[{"source":"OMIM","code":"606693","qualifier":"NTBT","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":"0017809","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5230619","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3336,"name":"TomÚ-Brunet-Fardeau syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":514980,"name":"ATP13A2-related parkinsonism","classifications":[156,181]},{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","classifications":[150,156,181,189]},{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP13A2","name":"ATPase cation transporting 13A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22388936[PMID]","hgnc":"30213","ensembl":"ENSG00000159363","omim":"610513","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22388936[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-12","source":"25197640[PMID]","terms":[{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}