{"orpha":276198,"name":"Spinocerebellar ataxia type 36","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Asidan","SCA36"],"definition":"An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276198/","orphanet_url":"https://www.orpha.net/en/disease/detail/276198","names":{"fr":{"name":"Ataxie spinocérébelleuse type 36","synonyms":["Asidan","SCA36"],"definition":"Ataxie cérébelleuse autosomique dominante de type 1 qui se caractérise par une ataxie des membres et de la marche, une spasticité des membres inférieurs, une dysarthrie, des fasciculations musculaires, une atrophie de la langue et une hyperréflexie."},"de":{"name":"Ataxie, spinozerebelläre, Typ 36","synonyms":["SCA36"],"definition":"Eine autosomal-dominante zerebelläre Ataxie Typ 1, die durch Gang- und Gliederataxie, Spastik der unteren Gliedmaßen, Dysarthrie, Muskelfaszikulationen, Zungenatrophie und Hyperreflexie gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebelosa tipo 36","synonyms":["Asidan","SCA36"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo I caracterizada por ataxia de la marcha y apendicular, espasticidad de las extremidades inferiores, disartria, fasciculaciones musculares, atrofia lingual e hiperreflexia."},"it":{"name":"Atassia spinocerebellare tipo 36","synonyms":["Asidan","SCA36"],"definition":"L'atassia spinocerebellare tipo 36 (SCA36) è una forma di atassia cerebellare autosomica dominante tipo I, caratterizzata da atassia dell'andatura e degli arti, spasticità degli arti inferiori, disartria, fascicolazioni muscolari, atrofia della lingua e iperreflessia."},"nl":{"name":"Spinocerebellaire ataxie type 36","synonyms":["Asidan","SCA36"],"definition":"Een autosomaal dominante cerebellaire ataxie type 1, gekarakteriseerd door gang- en ledemaatataxie, spasticiteit van onderste ledematen, dysartrie, spierfasciculaties, atrofie van tong, en hyperreflexie."},"pt":{"name":"Ataxia espinocerebelosa tipo 36","synonyms":["SCA36"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 36","synonyms":["SCA36"]},"cs":{"name":"Spinocerebelární ataxie, typ 36","synonyms":["Asidan","SCA36"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 36","synonyms":["Асідан","SCA36"],"definition":"An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia."},"zh":{"name":"脊髓小脑性共济失调36型","synonyms":["Asidan"],"definition":"一种常染色体显性遗传性小脑性共济失调1型，以步态和四肢共济失调、下肢痉挛、构音障碍、 肌束颤动、舌头萎缩和反射亢进为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 36","synonyms":["SCA36","Asidan"]}},"xrefs":[{"source":"OMIM","code":"614153","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1544814018"},{"source":"MONDO","code":"0013594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3472711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NOP56","name":"NOP56 ribonucleoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"15911","ensembl":"ENSG00000101361","omim":"614154","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25101480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25101480[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-15","source":"22492559[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007001","label":"Loss of Purkinje cells in the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null}]}}