{"orpha":314603,"name":"Autosomal recessive spastic ataxia with leukoencephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARSAL","Autosomal recessive spastic ataxia type 3","SPAX3"],"definition":"A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314603/","orphanet_url":"https://www.orpha.net/en/disease/detail/314603","names":{"fr":{"name":"Ataxie spastique autosomique récessive avec leucoencéphalopathie","synonyms":["ARSAL","Ataxie spastique autosomique récessive type 3","SPAX3"],"definition":"Ataxie spastique autosomique récessive rare d'origine génétique caractérisée par une ataxie cérébelleuse, une spasticité, une atrophie cérébelleuse (et dans certains cas cérébrale), une dystonie et une leucoencéphalopathie."},"de":{"name":"Autosomal-rezessive spastische Ataxie mit Leukoenzephalopathie","synonyms":["ARSAL","Ataxie, spastische, autosomal-rezessive, Typ 3","SPAX3"],"definition":"Eine seltene, genetisch bedingte, autosomal-rezessive spastische Ataxie, die durch zerebelläre Ataxie, Spastizität, Kleinhirn- (und in einigen Fällen auch Großhirn-) Atrophie, Dystonie und Leukoenzephalopathie gekennzeichnet ist."},"es":{"name":"Ataxia espástica autosómica recesiva con leucoencefalopatía","synonyms":["ARSAL","Ataxia espástica autosómica recesiva tipo 3","SPAX3"],"definition":"Es una enfermedad genética y poco frecuente de ataxia espástica autosómica recesiva caracterizada por ataxia cerebelosa, espasticidad, atrofia cerebelosa (y en algunos casos cerebral), distonía y leucoencefalopatía."},"it":{"name":"Atassia spastica autosomica recessiva con leucoencefalopatia","synonyms":["ARSAL","Atassia spastica autosomica recessiva, tipo 3","SPAX3"],"definition":"È un'atassia spastica genetica rara, a trasmissione autosomica recessiva, caratterizzata da atassia cerebellare, spasticità, atrofia cerebellare (in alcuni casi cerebrale), distonia e leucoencefalopatia."},"nl":{"name":"Autosomaal recessieve spastische ataxie met leuko-encefalopathie","synonyms":["ARSAL","Autosomaal recessieve spastische ataxie type 3","SPAX3"],"definition":"Een zeldzame, genetische, autosomaal recessieve spastische ataxie die gekarakteriseerd wordt door cerebellaire ataxie, spasticiteit, cerebellaire (en in sommige gevallen cerebrale) atrofie, dystonie, en leuko-encefalopathie."},"pt":{"name":"Ataxia espástica autossómica recessiva com leucoencefalopatia","synonyms":["ARSAL","Ataxia espástica autossómica recessiva tipo 3","SPAX3"]},"pl":{"name":"Autosomalna recesywna ataksja spastyczna z leukoencefalopatią","synonyms":["ARSAL","Autosomalna recesywna ataksja spastyczna typu 3","SPAX3"]},"cs":{"name":"Autozomálně recesivní spastická ataxie s leukoencefalopatií","synonyms":["ARSAL","SPAX3","Autozomálně recesivní spastická ataxie, typ 3"]},"uk":{"name":"Аутосомно-рецесивна спастична атаксія з лейкоенцефалопатією","synonyms":["ARSAL","Аутосомно-рецесивна спастична атаксія типу 3","SPAX3"],"definition":"A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy."},"zh":{"name":"常染色体隐性遗传痉挛性共济失调3型","synonyms":["常染色体隐性遗传痉挛性共济失调3型"],"definition":"一种罕见的遗传性、常染色体隐性遗传性痉挛性共济失调疾病，其特征是小脑共济失调、痉挛、小脑（有时还有大脑）萎缩、肌张力障碍和脑白质病。"},"tr":{"name":"Lökoensefalopati ile seyreden otozomal resesif spastik ataksi","synonyms":["ARSAL","SPAX3","Otozomal çekinik spastik ataksi tip 3"]}},"xrefs":[{"source":"OMIM","code":"611390","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566956","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969645","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316240,"name":"Autosomal recessive spastic ataxia","classifications":[156,181]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MARS2","name":"methionyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22448145[PMID]","hgnc":"25133","ensembl":"ENSG00000247626","omim":"609728","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"22448145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22448145[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-02","source":"16672289[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}