{"orpha":1175,"name":"X-linked progressive cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1175/","orphanet_url":"https://www.orpha.net/en/disease/detail/1175","names":{"fr":{"name":"Ataxie cérébelleuse progressive liée à l'X","definition":"Ataxie cérébelleuse rare liée à l'X caractérisée par l'association de signes d'atteinte des motoneurones supérieurs et inférieurs, survenant dans la première ou deuxième décennie de vie, une progression lente et une intelligence non affectée. Les manifestations typiques du dysfonctionnement cérébelleux sont une ataxie de la marche et des membres, des tremblements intentionnels, une dysmétrie, une dysdiadococinésie, une dysarthrie, un nystagmus et une hyperréflexie. Les autres signes phénotypiques sont des pieds creux, une scoliose, une atrophie musculaire et des anomalies des nerfs sensoriels périphériques et des nerfs moteurs."},"de":{"name":"Ataxie, zerebelläre, X-chromosomale, Typ 1","synonyms":["Kleinhirnataxie, X-chromosomale"],"definition":"Die X-chromosomale Kleinhirnataxie Typ 1 ist eine seltene hereditäre Ataxie, die durch Beteiligung der oberen und unteren Motoneuronen gekennzeichnet ist, langsam fortschreitet, im ersten oder zweiten Jahrzehnt auftritt und mit normalen kognitiven Fähigkeiten einhergeht. Typische Merkmale der zerebellären Ataxie sind Gang- und Gliederataxie, Intentionstremor, Dysmetrie, Dysdiadochokinese, Dysarthrie, Nystagmus und Hyperreflexie. Weitere phänotypische Merkmale sind Pes cavus, Skoliose, Muskelatrophie und periphere sensorische und motorische Nervenanomalien."},"es":{"name":"Ataxia cerebelosa progresiva ligada al cromosoma X","definition":"Es una ataxia cerebelosa poco frecuente ligada al cromosoma X caracterizada por una combinación de signos de motoneurona superior e inferior, con una edad de inicio en la primera o en la segunda década de la vida, progresión lenta e inteligencia normal. Los hallazgos típicos de la disfunción cerebelosa incluyen ataxia de la marcha y las extremidades, temblor intencional, dismetría, disdiadococinesia, disartria, nistagmo e hiperreflexia. Otros hallazgos fenotípicos adicionales son pie cavo, escoliosis, atrofia muscular y anomalías nerviosas periféricas sensitivo-motoras."},"it":{"name":"Atassia cerebellare progressiva legata all'X","definition":"Si tratta di un'atassia cerebellare rara legata all'X, caratterizzata da sintomi collegati ai motoneuroni superiori e inferiori, a progressione lenta, che esordiscono nella prima o seconda decade, con intelligenza normale. I segni clinici caratteristici della disfunzione cerebellare comprendono l'andatura atassica e l'atassia degli arti, il tremore intenzionale, la dismetria, la disdiadococinesia, la disartria, il nistagmo e l'iperreflessia. I pazienti possono presentare anche piede cavo, scoliosi, atrofia muscolare e anomalie dei nervi sensoriali e motori periferici."},"nl":{"name":"X-gebonden progressieve cerebellaire ataxie","definition":"Een zeldzame, X-gebonden cerebellaire ataxie, gekarakteriseerd door een combinatie van tekenen van hogere en lagere motorneuronen, een aanvangsleeftijd in het eerste of tweede levensdecennium, trage progressie, e normale intelligentie. Typische kenmerken van cerebellaire disfunctie zijn onder meer ataxie van gang en ledematen, intentietremor, dysmetrie, dysdiadochokinesie, dysartrie, nystagmus, en hyperreflexie. Overige fenotypische kenmerken zijn pes cavus, scoliose, spieratrofie, en afwijkingen van perifere sensorische en motorische zenuwen."},"pt":{"name":"Ataxia cerebelosa progressiva ligada ao X"},"pl":{"name":"Postępująca ataksja możdżkowa sprzężona z chromosomem X"},"cs":{"name":"X-vázaná progresivní cerebelární ataxie"},"uk":{"name":"Х-зчеплена прогресуюча мозочкова атаксія","definition":"A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities."},"zh":{"name":"X-连锁进行性小脑共济失调"},"tr":{"name":"X'e bağlı ilerleyici serebellar ataksi"}},"xrefs":[{"source":"OMIM","code":"302500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"302800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"639841814"},{"source":"MONDO","code":"0010547","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GJB1","name":"gap junction protein beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23773993[PMID]","hgnc":"4283","ensembl":"ENSG00000169562","omim":"304040","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-09","source":"23773993[PMID]_10797423[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003447","label":"Axonal loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Occasional (29-5%)","criteria":null}]}}