{"orpha":227510,"name":"Multiple system atrophy, cerebellar type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Sporadic OPCA type 1","Sporadic olivopontocerebellar atrophy type 1","MSA, cerebellar type","MSA-c"],"definition":"Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227510/","orphanet_url":"https://www.orpha.net/en/disease/detail/227510","names":{"fr":{"name":"Atrophie multisystématisée type cérébelleux","synonyms":["AMS type cérébelleux","AMS-c","AOPC sporadique type 1","Atrophie multisystémique type cérébelleux","Atrophie olivopontocérébelleuse sporadique type 1"],"definition":"L'atrophie multisystématisée type cérébelleux (AMS-c) est une forme d'atrophie multisystématisée (AMS) avec des caractéristiques cérébelleuses prédominantes (ataxie des membres et de la marche, troubles oculomoteurs et dysarthrie)."},"de":{"name":"Multisystematrophie, zerebellärer Typ","synonyms":["MSA, zerebelläre","MSA-C","OPCA","Olivopontozerebelläre Atrophie"],"definition":"Der zerebelläre Typ der Multisystematrophie (MSA-c) ist eine Form der Multisystematrophie (MSA; s. dort) mit überwiegend zerebellären Symptomen (Gang- und Gliedmassen-Ataxie, okulo-motorische Dysfunktion und Dysarthrie)."},"es":{"name":"Atrofia multisistémica tipo cerebeloso","synonyms":["AMS tipo cerebeloso","AMS-c","AOPC","Atrofia olivopontocerebelosa"],"definition":"La atrofia multisistémica de tipo cerebeloso (AMS-c) es una forma de atrofia multisistémica (AMS; ver este término) con rasgos predominantemente cerebelosos como marcha atáxica y ataxia de las extremidades, disfunción oculomotora y disartria."},"it":{"name":"Atrofia multisistemica, tipo cerebellare","synonyms":["Atrofia olivo-ponto-cerebellare","MSA, tipo cerebellare","MSA-c","OPCA"],"definition":"L'atrofia multisistemica di tipo cerebellare (MSA-c) è una forma di atrofia multisistemica (MSA; si veda questo termine) con segni cerebellari predominanti (atassia durante il cammino e agli arti, disfunzione oculomotoria e disartria)."},"nl":{"name":"Meervoudige systeematrofie, cerebellair type","synonyms":["MSA, cerebellair type","MSA-c","Sporadische OPCA type 1","Sporadische olivopontocerebellaire atrofie type 1"],"definition":"Meervoudige systeematrofie, cerebellair type (MSA-c) is een vorm van meervoudige systeematrofie (MSA; zie deze term) met overheersend cerebellaire symptomen (gang- en ledemaatataxie, oculomotorische stoornis, en dysartrie)."},"pt":{"name":"Atrofia multissistémica, tipo cerebelosa","synonyms":["Atrofia olivo-ponto-cerebelosa tipo 1","MSA, tipo cerebelosa","MSA-c","OPCA esporádica tipo 1"]},"pl":{"name":"Zanik wieloukładowy, typ móżdżkowy","synonyms":["MSA, typ móżdżkowy","MSA-c","Sporadyczny OPCA typu 1","Sporadyczny zanik oliwkowo-mostowo-móżdżkowy typu 1"],"definition":"Zanik wieloukładowy typu móżdżkowego (MSA-c) to postać zaniku wieloukładowego (MSA, sprawdź ten termin) z dominującymi objawami móżdżkowymi (ataksja chodu, dysfunkcja okoruchowa i dysartria)."},"cs":{"name":"Mnohočetná systémová atrofie, mozečkový typ","synonyms":["MSA, cerebelární typ","MSA-c","Sporadická OPCA, typ 1","Sporadická olivopontocerebelární atrofie, typ 1"]},"uk":{"name":"Розсіяна системна атрофія, мозочковий тип","synonyms":["MSA, мозочковий тип","MSA-c","Спорадична олівопонтоцеребеллярна атрофія типу 1","Спорадичний тип OPCA 1"],"definition":"Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)."},"zh":{"name":"多系统萎缩，小脑型","synonyms":["散发性橄榄-桥脑-小脑萎缩1型"],"definition":"多系统萎缩，小脑型（MSA-c）是多系统萎缩（MSA；见该词条）的一种类型，主要表现为小脑异常（步态和肢体共济失调、动眼神经功能障碍和构音障碍）。"},"tr":{"name":"Çoklu sistem atrofisi, serebellar tip","synonyms":["MSA-c","MSA, serebellar tip","Sporadik OPCA tip 1","Sporadik olivopontoserebellar atrofi tip 1"]}},"xrefs":[{"source":"ICD-10","code":"G23.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8D87.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1585600114"},{"source":"MONDO","code":"0016418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5554234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102,"name":"Multiple system atrophy","classifications":[181]},{"orpha":247239,"name":"Non-hereditary degenerative ataxia","classifications":[181]}],"children":[],"genes":[{"symbol":"COQ2","name":"coenzyme Q2, polyprenyltransferase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23758206[PMID]","hgnc":"25223","ensembl":"ENSG00000173085","omim":"609825","loci":["4q21.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"18725592[PMID]_14747001[PMID]_23758206[PMID]_14219099[PMID]_14446364[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005341","label":"Autonomic bladder dysfunction","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008652","label":"Autonomic erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010545","label":"Downbeat nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030015","label":"Female anorgasmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012670","label":"Orthostatic syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null}]}}