{"orpha":251282,"name":"Autosomal dominant spastic ataxia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPAX1"],"definition":"A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251282/","orphanet_url":"https://www.orpha.net/en/disease/detail/251282","names":{"fr":{"name":"Ataxie spastique autosomique dominante type 1","synonyms":["SPAX1"],"definition":"Ataxie spastique autosomique dominante génétique rare, caractérisée par une spasticité des membres inférieurs et une ataxie à type de hochements de tête, d'anomalies du mouvement oculaire, de dysarthrie, de dysphagie et de troubles de la marche."},"de":{"name":"Spastische Ataxie, autosomal-dominante, Typ 1","synonyms":["ADSA"],"definition":"Eine autosomal-dominante spastische Ataxie, die durch Spastik der unteren Gliedmaßen und Ataxie in Form von Kopfzuckungen, Augenbewegungsstörungen, Dysarthrie, Dysphagie und Gangstörungen gekennzeichnet ist."},"es":{"name":"Ataxia espástica autosómica dominante tipo 1","definition":"Es un trastorno genético y poco frecuente de ataxia espástica autosómica dominante caracterizada por espasticidad de las extremidades inferiores y ataxia en forma de sacudidas de cabeza, anomalías del movimiento ocular, disartria, disfagia y trastornos de la marcha."},"it":{"name":"Atassia spastica autosomica dominante tipo 1","definition":"È un'atassia spastica genetica rara, a trasmissione autosomica dominate, caratterizzata da spasticità ed atassia degli arti inferiori con scosse del capo, anomalie dei movimenti oculari, disartria, disfagia e anomalie della deambulazione."},"nl":{"name":"Autosomaal dominante spastische ataxie 1","definition":"Een zeldzame, genetische, autosomaal dominante spastische ataxie die gekarakteriseerd wordt door spasticiteit en ataxie van de onderste ledematen in de vorm van onvrijwillig schudden met het hoofd, afwijkende oogbewegingen, dysartrie, dysfagie en gangstoornissen."},"pt":{"name":"Ataxia espástica autossómica dominante tipo 1","synonyms":["ADSA"]},"pl":{"name":"Autosomalna dominująca ataksja spastyczna 1","synonyms":["SPAX1"]},"cs":{"name":"Autozomálně dominantní spastická ataxie, typ 1","synonyms":["SPAX1"]},"uk":{"name":"Аутосомно-домінантна спастична атаксія, тип 1","synonyms":["SPAX1"],"definition":"A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances."},"zh":{"name":"1型痉挛性共济失调","synonyms":["SPAX1"],"definition":"痉挛性共济失调是一种罕见的常染色体显性遗传性痉挛性共济失调，以下肢痉挛和共济失调为特征，表现为头部抽搐、眼球运动异常、构音障碍、吞咽困难和步态障碍"},"tr":{"name":"Otozomal dominant spastik ataksi tip 1","synonyms":["SPAX1"]}},"xrefs":[{"source":"OMIM","code":"108600","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":"0007164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970107","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316235,"name":"Autosomal dominant spastic ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VAMP1","name":"vesicle associated membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22958904[PMID]","hgnc":"12642","ensembl":"ENSG00000139190","omim":"185880","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22958904[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"22958904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"22958904[PMID]_15523628[PMID]_11774073[PMID]_14083222[PMID]","terms":[{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}