{"orpha":254343,"name":"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spastic ataxia type 4","SPAX4"],"definition":"A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254343/","orphanet_url":"https://www.orpha.net/en/disease/detail/254343","names":{"fr":{"name":"Syndrome d'ataxie spastique autosomique récessive-atrophie optique-dysarthrie","synonyms":["Ataxie spastique autosomique récessive type 4","SPAX4"],"definition":"Ataxie spastique autosomique récessive rare d'origine génétique caractérisée par l'apparition, pendant la petite enfance, d'une paraparésie spastique, d'une ataxie cérébelleuse, d'une dysarthrie et d'une atrophie optique."},"de":{"name":"Autosomal-rezessive spastische Ataxie-Optikusatrophie-Dysarthrie-Syndrom","synonyms":["SPAX4","Spastische Ataxie, autosomal-rezessive, Typ 4"],"definition":"Eine seltene, autosomal-rezessive Form der spastischen Ataxie, die in der frühen Kindheit auftritt und gekennzeichnet ist durch spastische Paraparese, zerebelläre Ataxie, Dysarthrie und Optikusatrophie."},"es":{"name":"Síndrome de ataxia espástica autosómica recesiva-atrofia óptica-disartria","synonyms":["Ataxia espástica autosómica recesiva tipo 4","SPAX4"],"definition":"Es una ataxia espástica autosómica recesiva, genética y poco frecuente, caracterizada por la aparición en la infancia temprana de paraparesia espástica, ataxia cerebelosa, disartria y atrofia óptica."},"it":{"name":"Aprassia spastica autosomica recessiva con atrofia ottica e disartria","synonyms":["Atassia spastica autosomica recessiva 4","SPAX4"],"definition":"È un'atassia spastica genetica rara a trasmissione autosomica recessiva, che esordisce nella prima infanzia con paraparesi spastica, atassia cerebellare, disartria ed atrofia ottica."},"nl":{"name":"Autosomaal recessieve spastische ataxie - opticusatrofie - dysartrie-syndroom","synonyms":["Autosomaal recessieve spastische ataxie - optische atrofie - dysartrie-syndroom","Autosomaal recessieve spastische ataxie type 4","SPAX4"],"definition":"Een zeldzame, genetische, autosomaal recessieve spastische ataxie die gekarakteriseerd wordt door aanvang in de vroege kindertijd van spastische paraparese, cerebellaire ataxie, dysartrie en opticusatrofie."},"pt":{"name":"Síndrome de ataxia espástica autossómica recessiva-atrofia óptica-disartria"},"pl":{"name":"Autosomalna recesywna ataksja spastyczna - zanik nerwu wzrokowego - dyzartria","synonyms":["Autosomalna recesywna ataksja spastyczna typu 4","SPAX4"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní spastickou ataxii, atrofii optiku a dysartrii","synonyms":["SPAX4","Autozomálně recesivní spastická ataxie, typ 4"]},"uk":{"name":"Аутосомно-рецесивний синдром спастичної атаксії - атрофії зорового нерва - дизартрії","synonyms":["Аутосомно-рецесивна спастична атаксія типу 4","SPAX4"],"definition":"A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy."},"zh":{"name":"常染色体隐性痉挛性共济失调-视神经萎缩-构音障碍综合征","synonyms":["痉挛性共济失调4型"],"definition":"一种罕见的遗传性常染色体隐性痉挛性共济失调疾病，其特征是在儿童早期出现痉挛性瘫痪、小脑性共济失调、构音障碍和视神经萎缩。"},"tr":{"name":"Otozomal resesif spastik ataksi-optik atrofi-dizartri sendromu","synonyms":["SPAX4","Otozomal çekinik spastik ataksi tip 4"]}},"xrefs":[{"source":"OMIM","code":"613672","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":"0013354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150925","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10992","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]}],"children":[],"genes":[{"symbol":"MTPAP","name":"mitochondrial poly(A) polymerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20970105[PMID]","hgnc":"25532","ensembl":"ENSG00000107951","omim":"613669","loci":["10p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"20970105[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20970105[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-02","source":"20970105[PMID]_25008111[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000182","label":"Movement abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200049","label":"Upper limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null}]}}