{"orpha":1170,"name":"Autosomal recessive cerebelloparenchymal disorder type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 2","SCAR2"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1170/","orphanet_url":"https://www.orpha.net/en/disease/detail/1170","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive type 3","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 2","SCAR2"],"definition":"Ataxie cérébelleuse autosomique récessive rare caractérisée par l'apparition précoce de signes et de symptômes cérébelleux évoluant lentement ou pas du tout, incluant une ataxie tronculaire et une ataxie de la marche, une dysarthrie, une dysmétrie, une dysdiadochokinésie, des tremblements et un nystagmus. Le retard psychomoteur et la déficience intellectuelle sont variables. La spasticité, l'hypotonie, la cataracte et l'hypoacousie neurosensorielle, entre autres, sont d'autres caractéristiques rapportées. L'imagerie cérébrale met en évidence une atrophie cérébelleuse."},"de":{"name":"Zerebello-parenchymale Krankheit, autosomal-rezessive, Typ 3","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 2","SCAR2"],"definition":"Eine seltene autosomal-rezessive zerebelläre Ataxie, die durch ein frühes Auftreten von nicht oder langsam progredienten zerebellären Anzeichen und Symptomen gekennzeichnet ist, einschließlich Stamm- und Gangataxie, Dysarthrie, Dysmetrie, Dysdiadochokinese, Tremor und Nystagmus. Die verzögerte psychomotorische Entwicklung und die Intelligenzminderung sind unterschiedlich ausgeprägt. Als weitere Merkmale werden unter anderem Spastizität, Hypotonie, Katarakte und sensorineurale Schwerhörigkeit berichtet. Die Bildgebung des Gehirns zeigt eine Atrophie des Kleinhirns."},"es":{"name":"Trastorno cerebeloparenquimatoso autosómico recesivo tipo 3","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 2","SCAR2"],"definition":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por la aparición precoz de signos y síntomas cerebelosos no progresivos o lentamente progresivos, que incluyen ataxia troncal y de la marcha, disartria, dismetría, disdiadococinesia, temblor y nistagmo. El retraso del desarrollo psicomotor y la discapacidad intelectual son variables. Otras características adicionales descritas son espasticidad, hipotonía, cataratas y pérdida auditiva neurosensorial, entre otras. Las neuroimágenes muestran atrofia cerebelosa."},"it":{"name":"Disturbo cerebelloparenchimale autosomico recessivo, tipo 3","synonyms":["SCAR2"]},"nl":{"name":"Autosomaal recessieve cerebelloparenchymale aandoening type 3","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 2","SCAR2"],"definition":"Een zeldzame autosomaal recessieve cerebellaire ataxie, gekenmerkt door vroeg optreden van niet-progressieve of traag progressieve cerebellaire verschijnselen en symptomen waaronder romp- en gangataxie, dysartrie, dysmetrie, dysdiadochokinese, tremor, en nystagmus. Vertraagde psychomotorische ontwikkeling en intellectuele achterstand zijn variabel. Bijkomende kenmerken die worden gerapporteerd, zijn onder meer spasticiteit, hypotonie, cataract, en sensorineuraal gehoorverlies. Beeldvorming van hersenen toont cerebellaire atrofie."},"pt":{"name":"Doença cerebeloparenquimatosa autossómica recessiva tipo 3","definition":"Uma ataxia cerebelosa autossómica recessiva rara caracterizada pelo aparecimento precoce de sinais e sintomas cerebelosos não progressivos ou lentamente progressivos, incluindo ataxia do tronco e da marcha, disartria, dismetria, disdiadococinesia, tremor e nistagmo. O atraso no desenvolvimento psicomotor e a perturbação do desenvolvimento intelectual são variáveis. Outras características relatadas são a espasticidade, a hipotonia, a catarata e a perda auditiva neurossensorial, entre outras. A imagiologia cerebral mostra atrofia cerebelosa."},"pl":{"name":"Autosomalne recesywne zaburzenie miąższu móżdżku typu 3","synonyms":["SCAR2","Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 2"],"definition":"Rzadka ataksja móżdżkowa, dziedziczona w sposób autosomalny recesywny, charakteryzująca się wczesnym początkiem niepostępujących lub powoli postępujących objawów móżdżkowych, w tym ataksji tułowia i chodu, dysartrii, dysmetrii, dysdiadochokinezy, drżenia i oczopląsu. Opóźniony rozwój psychoruchowy i niepełnosprawność intelektualna są zmienne. Dodatkowo zgłaszane objawy to między innymi spastyczność, hipotonia, zaćma i niedosłuch odbiorczy. W badaniach obrazowych mózgu widoczny jest zanik móżdżku."},"cs":{"name":"Autozomálně recesivní cerebeloparenchymální porucha, typ 3","synonyms":["SCAR2"]},"uk":{"name":"Аутосомно-рецесивний церебелопаренхіматозний розлад, тип 3","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія типу 2","SCAR2"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy."},"zh":{"name":"常染色体隐性遗传小脑皮质病3型","synonyms":["常染色体隐性遗传脊髓小脑共济失调2型"]},"tr":{"name":"Otozomal resesif serebelloparenkimal bozukluk tip 3","synonyms":["SCAR2","Otozomal Çekinik spinoserebellar ataksi tip 2"]}},"xrefs":[{"source":"OMIM","code":"213200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859298","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PMPCA","name":"peptidase, mitochondrial processing subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25808372[PMID]","hgnc":"18667","ensembl":"ENSG00000165688","omim":"613036","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-27","source":"25808372[PMID]_20301317[PMID]_29891078[PMID]_31267374[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","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:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002275","label":"Poor motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}