{"orpha":98933,"name":"Multiple system atrophy, parkinsonian type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MSA, parkinsonian type","MSA-p"],"definition":"Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98933/","orphanet_url":"https://www.orpha.net/en/disease/detail/98933","names":{"fr":{"name":"Atrophie multisystématisée type parkinsonien","synonyms":["AMS type parkinsonien","AMS-p","Atrophie multisystémique type parkinsonien"],"definition":"L'atrophie multisystématisée type parkinsonien (AMS-p) est une forme d'atrophie multisystématisée (AMS) avec des caractéristiques parkinsoniennes prédominantes (bradykinésie, rigidité, tremblements posturaux irréguliers et instabilité posturale)."},"de":{"name":"Multisystematrophie vom Typ Parkinson","synonyms":["MSA vom Parkinsontyp","MSA-P"],"definition":"Der Parkinson-Typ der Multiystematrophie (MSA-p) ist eine Form der Multisystematrophie (MSA; s. dort) mit vorwiegend Parkinson-artigen Merkmalen (Bradykinesie, Rigidität, unregelmäßiger ruckartiger Haltungstremor und instabile Haltung)."},"es":{"name":"Atrofia multisistémica tipo parkinsoniano","synonyms":["ASM tipo parkinsoniano","ASM-p"],"definition":"La atrofia multisistémica de tipo parkinsoniano (AMS-p) es una forma de AMS (ver este término) con rasgos predominantemente parkinsonianos (bradicinesia, rigidez, temblor postural irregular y errático e inestabilidad postural)."},"it":{"name":"Atrofia multisistemica, tipo parkinsoniano","synonyms":["MSA, tipo parkinsoniano","MSA-p"],"definition":"L'atrofia multisistemica di tipo parkinsoniano (MSA-p) è una forma di atrofia mutisistemica (MSA; si veda questo termine) con segni parkinsoniani predominanti (bradicinesia, rigidità, tremore posturale irregolare a scatti, e instabilità posturale)."},"nl":{"name":"Meervoudige systeematrofie, parkinsoniaans type","synonyms":["MSA, parkinsoniaans type","MSA-p"],"definition":"Meervoudige systeematrofie, parkinsoniaans type (MSA-p) is een vorm van meervoudige systeematrofie (MSA; zie deze term) met overheersend parkinsoniaanse kenmerken (bradykinesie, stijfheid, onregelmatige schokkerige posturale tremor, en posturale instabiliteit)."},"pt":{"name":"Degeneração estriatonígrica"},"pl":{"name":"Zanik wieloukładowy, typ parkinsonowski","synonyms":["MSA, typ parkinsonowski","MSA-p"],"definition":"Zanik wieloukładowy typu parkinsonowskiego (MSA-p) to postać zaniku wieloukładowego (MSA; sprawdź ten termin) z dominującymi objawami parkinsonowskimi (bradykinezja, sztywność, nieregularne drżenie pozycyjne i niestabilność postawy ciała)."},"cs":{"name":"Mnohočetná systémová atrofie parkinsonského typu","synonyms":["MSA parkinsonského typu","MSA-p"]},"uk":{"name":"Множинна системна атрофія, паркінсонічний тип","synonyms":["MSA, паркінсонічний тип","MSA-p"],"definition":"Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."},"zh":{"name":"多系统萎缩帕金森型","synonyms":["MAS帕金森型"],"definition":"多发性系统性萎缩帕金森型(MSA-p)是多发性系统性萎缩(MSA)的一种形式，具有帕金森病的主要特征(运动迟缓、僵硬、姿势震颤和姿势不稳定)。"},"tr":{"name":"Multi sistem atrofisi, parkinson tipi","synonyms":["MSA-p","MSA, parkinson tipi"]}},"xrefs":[{"source":"ICD-10","code":"G23.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8D87.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"296753000"},{"source":"MONDO","code":"0020352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5554235","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":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","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":"Value and class","class":"1-9 / 100 000","value":2.4,"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:0000741","label":"Apathy","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:0002067","label":"Bradykinesia","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:0030015","label":"Female anorgasmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","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:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"}]}}