{"orpha":497764,"name":"Spinocerebellar ataxia type 43","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA43"],"definition":"Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-497764/","orphanet_url":"https://www.orpha.net/en/disease/detail/497764","names":{"fr":{"name":"Ataxie spinocérébelleuse type 43","synonyms":["SCA43"],"definition":"Une ataxie cérébelleuse de type I, rare et de transmission autosomique dominante, caractérisée par l'apparition tardive à l'âge adulte d'une ataxie cérébelleuse lentement progressive, se manifestant par un trouble de l'équilibre et de la marche, associée à une neuropathie axonale périphérique conduisant à une diminution/absence de réflexes tendineux profonds et à une atteinte sensorielle. Une douleur et une amyotrophie des membres inférieurs peuvent être présentes, ainsi que divers signes cérébelleux, dont une dysarthrie, un nystagmus, des saccades hypométriques et un tremblement."},"de":{"name":"Spinozerebelläre Ataxie Typ 43","synonyms":["SCA43"]},"es":{"name":"Ataxia espinocerebelosa tipo 43","synonyms":["SCA43"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo 1 poco frecuente. Está caracterizada por una ataxia cerebelosa lentamente progresiva de inicio en la edad adulta tardía que se presenta típicamente con alteración del equilibrio y de la marcha, junto con neuropatía periférica axonal que resulta en reflejos osteotendinosos ausentes o reducidos asi como alteraciones de la sensibilidad. Puede cursar con dolor en las extremidades inferiores y amiotrofia, así como con diversos signos cerebelosos, que incluyen disartria, nistagmo, sacadas hipométricas y temblor."},"it":{"name":"Atassia spinocerebellare tipo 43","definition":"L'atassia spinocerebellare tipo 43 è un sottotipo raro dell'atassia cerebellare autosomica dominate tipo 1, che esordisce nella tarda età adulta con atassia cerebellare a progressione lenta, che di solito si manifesta con disturbi dell'equilibrio e dell'andatura, associata a neuropatia periferica assonale, che esita nella riduzione/assenza dei riflessi tendinei profondi e in deficit sensoriali. I pazienti possono presentare dolore agli arti inferiori, amiotrofia e segni cerebellari (disartria, nistagmo, saccadi ipometriche e tremore)."},"nl":{"name":"Spinocerebellaire ataxie type 43","synonyms":["SCA43"],"definition":"Spinocerebellaire ataxie type 43 is een zeldzame, autosomaal dominante cerebellaire ataxie type I, en wordt gekarakteriseerd door aanvang in de late volwassenheid van traag progressieve cerebellaire ataxie die zich doorgaans presenteert met evenwichts- en gangstoornissen, geassocieerd met axonale perifere neuropathie die leidt tot verminderde/afwezige diepe peesreflexen en sensorische stoornissen. Pijn en amyotrofie in de onderste ledematen kunnen aanwezig zijn, alsook verscheidene cerebellaire tekenen, waaronder dysartrie, nystagmus, hypometrische oogbewegingen en tremor."},"pt":{"name":"Ataxia espinocerebelosa tipo 43","synonyms":["SCA43"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typ 43","synonyms":["SCA typ 43"],"definition":"*Ataksja rdzeniowo-móżdżkowa typu 43 to rzadka ataksja móżdżkowa typu I, dziedzicząca się w sposób autosomalny dominujący, która charakteryzuje się powoli postępującą niezbornością móżdżkową o początku późnym, w wieku dorosłym, przebiegająca zwykle z zaburzeniami chodu i równowagi, i skojarzona z neuropatią obwodową o charakterze aksonalnym, która prowadzi do osłabienia/zaniku odruchów ścięgnistych oraz zaburzeń czucia. Mogą występować bóle kończyn dolnych oraz zanik mięśni, a także różne objawy pochodzenia móżdżkowego, w tym dyzartria, oczopląs, sakady hipometryczne i drżenie."},"cs":{"name":"Spinocerebelární ataxie, typ 43","synonyms":["SCA43"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 43","synonyms":["SCA43"],"definition":"Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor."},"zh":{"name":"脊髓小脑共济失调43型","synonyms":["SCA43"],"definition":"43型脊髓小脑共济失调是一种罕见的常染色体显性I型小脑共济失调疾病，其特点是成人晚期发病，缓慢进行性小脑共济失调，典型表现为平衡和步态障碍，伴有轴突周围神经病变导致深部腱反射减弱/消失和感觉障碍。可出现下肢疼痛和肌萎缩，以及各种小脑体征，包括构音障碍、眼球震颤、扫视过低和震颤。"},"tr":{"name":"Spinoserebellar ataksi tip 43","synonyms":["SCA43"]}},"xrefs":[{"source":"OMIM","code":"617018","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310763","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":"MME","name":"membrane metalloendopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27583304[PMID]","hgnc":"7154","ensembl":"ENSG00000196549","omim":"120520","loci":["3q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27583304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27583304[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-16","source":"28855494[PMID]_27583304[PMID]_26991897[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Excluded (0%)","criteria":null}]}}