{"orpha":314978,"name":"X-linked non progressive cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314978/","orphanet_url":"https://www.orpha.net/en/disease/detail/314978","names":{"fr":{"name":"Ataxie cérébelleuse liée à l'X non progressive","definition":"Une ataxie héréditaire rare caractérisée par un retard précoce du développement moteur, une hypotonie néonatale sévère, une ataxie non progressive et des mouvements oculaires lents, sans atteinte cognitive et en l'absence de signes pyramidaux. Les patients présentent aussi fréquemment un tremblement d'intention, une légère dysphagie et une dysarthrie. L'imagerie par résonance magnétique (IRM) cérébrale révèle une atrophie cérébelleuse globale sans autres malformations ou dégénérescence des systèmes nerveux central et périphérique."},"de":{"name":"Ataxie, zerebelläre, nicht-progressive, X-chromosomale","definition":"Die X-chromosomale nicht-progressive Kleinhirnataxie ist eine seltene hereditäre Ataxie, die durch eine verzögerte frühe motorische Entwicklung, schwere neonatale Hypotonie, nicht-progressive Ataxie und langsame Augenbewegungen gekennzeichnet ist, wobei normale kognitive Fähigkeiten und das Fehlen von Pyramidenzeichen vorliegen. Häufig zeigen die Patienten auch Intentionstremor, leichte Dysphagie und Dysarthrie. Die MRT des Gehirns zeigt eine globale Kleinhirnatrophie bei Fehlen anderer Fehlbildungen oder Degenerationen des zentralen und peripheren Nervensystems."},"es":{"name":"Ataxia cerebelosa no progresiva ligada al cromosoma X","definition":"La ataxia cerebelosa no progresiva ligada al cromosoma X, es una ataxia hereditaria poco frecuente caracterizada por retraso del desarrollo motor temprano, hipotonía neonatal grave, ataxia no progresiva y movimientos oculares lentos, que presenta capacidades cognitivas normales y ausencia de signos piramidales. Los afectados también manifiestan, con frecuencia, temblor intencional, ligera disfagia y disartria. La resonancia magnética cerebral revela atrofia cerebelosa global con ausencia de otras malformaciones o degeneraciones del sistema nervioso central y periférico."},"it":{"name":"Atassia cerebellare non progressiva legata all'X","definition":"L'atassia cerebellare non progressiva legata all'X è un'atassia ereditaria rara, caratterizzata da ritardo precoce dello sviluppo motorio, grave ipotonia neonatale, atassia non progressiva e rallentamento dei movimenti oculari, abilità cognitive normali e assenza di segni piramidali. Spesso i pazienti presentano tremore intenzionale, lieve disfagia e disartria. La RMN del cervello evidenzia atrofia cerebellare generalizzata, in assenza di altre malformazioni o degenerazioni del sistema nervoso centrale e periferico."},"nl":{"name":"X-gebonden niet-progressieve cerebellaire ataxie","definition":"X-gebonden niet-progressieve cerebellaire ataxie is een zeldzame erfelijke ataxie die gekarakteriseerd wordt door vroege motorische ontwikkelingsachterstand, ernstige neonatale hypotonie, niet-progressieve ataxie en trage oogbewegingen, met normale cognitieve vaardigheden en afwezigheid van piramidale tekenen. Patiënten vertonen regelmatig ook intentietremor, milde dysfagie, en dysartrie. MRI van de hersenen toont algehele cerebellaire atrofie met afwezigheid van andere malformaties of degeneratie van het centrale en perifere zenuwstelsel."},"pt":{"name":"Ataxia cerebelosa não progressiva ligada ao X"},"pl":{"name":"Niepostępująca ataksja móżdżkowa sprzężona z chromosomem X","synonyms":["SCAX5","Ataksja rdzeniowo-móżdżkowa typu 5 sprzężona z chromosomem X"],"definition":"*Niepostępująca ataksja móżdżkowa sprzężona z chromosomem X jest rzadką dziedziczną ataksją, która charakteryzuje się wczesnym opóźnieniem rozwoju ruchowego, ciężką hipotonią w okresie noworodkowym, niepostępującą ataksją i powolnymi ruchami oczu, z zachowanymi prawidłowymi zdolnościami poznawczymi i brakiem objawów piramidowych. Często u pacjentów obserwuje się drżenie zamiarowe, łagodne zaburzenia połykania i mowy. W MRI mózgu widoczny jest globalny zanik móżdżku, nie obserwuje się jednak innych wad rozwojowych lub zwyrodnienia ośrodkowego i obwodowego układu nerwowego."},"cs":{"name":"X-vázaná neprogresivní cerebelární ataxie"},"uk":{"name":"Х-зчеплена непрогресуюча мозочкова атаксія","definition":"X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."},"zh":{"name":"X连锁非进行性小脑共济失调","definition":"X连锁非进行性小脑共济失调是一种罕见的遗传性共济失调，其特点是早期运动发育迟缓，新生儿严重肌张力低下，非进行性共济失调和眼球运动缓慢，认知能力正常，无锥体束征。通常患者还表现为意向性震颤、轻度吞咽困难和构音障碍。脑部核磁共振显示小脑萎缩，无其它病变或中枢及外周神经系统退化。"},"tr":{"name":"X'e bağlı ilerleyici olmayan serebellar ataksi"}},"xrefs":[{"source":"OMIM","code":"300703","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"302500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010404","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP2B3","name":"ATPase plasma membrane Ca2+ transporting 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"816","ensembl":"ENSG00000067842","omim":"300014","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18241076[PMID]_22912398[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-09","source":"22912398[PMID]_10797423[PMID]","terms":[{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","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":"Excluded (0%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}