{"orpha":363429,"name":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363429/","orphanet_url":"https://www.orpha.net/en/disease/detail/363429","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice","definition":"Le syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice est un trouble neurodégénératif génétique rare, lentement progressif. Il se caractérise par un retard du développement psychomoteur dès la petite enfance, un déficit intellectuel léger à profond, une démarche et une posture ataxiques, des signes pyramidaux (hyperréflexie, réponses d'extension plantaire), une dysarthrie et des anomalies oculaires (nystagmus, apraxie oculomotrice, troubles de l'abduction, ésotropie, ptosis). L'imagerie cérébrale révèle une atrophie cérébelleuse généralisée progressive, une légère ventriculomégalie et parfois, des kystes rétrocérébelleux."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Pyramidenbahnzeichen-Nystagmus-okulomotorische Apraxie-Syndrom","definition":"Eine seltene, genetisch bedingte, langsam fortschreitende neurodegenerative Erkrankung, die gekennzeichnet ist durch eine verzögerte psychomotorische Entwicklung ab dem Säuglingsalter, eine leichte bis schwere Intelligenzminderung, Gang- und Standataxie, Pyramidenzeichen (Hyperreflexie, Plantarstreckung), Dysarthrie und Augenanomalien (z. B. z. B. Nystagmus, okulomotorische Apraxie, Abduktionsdefizite, Esotropie, Ptosis). Die Bildgebung des Gehirns zeigt eine progressive, generalisierte Kleinhirnatrophie, eine leichte Ventrikulomegalie und in einigen Fällen retrozerebelläre Zysten."},"es":{"name":"Síndrome de ataxia cerebelosa autosómico recesivo-signos piramidales-nistagmo-apraxia oculomotora","definition":"Es una enfermedad neurodegenerativa lentamente progresiva, genética y poco frecuente, caracterizada por retraso del desarrollo psicomotor de inicio en la lactancia, discapacidad intelectual de leve a profunda, ataxia estática y de la marcha, signos piramidales (hiperreflexia, respuesta plantar extensora), disartria y anomalías oculares (por ejemplo, nistagmo, apraxia oculomotora, déficit de abducción, esotropía, ptosis). Las imágenes cerebrales revelan atrofia cerebelosa generalizada progresiva, leve ventriculomegalia y, en algunos casos, quistes retrocerebelosos."},"it":{"name":"Sindrome atassia cerebellare autosomica recessiva-segni piramidali-nistagmo-aprassia oculomotoria","definition":"L'atassia cerebellare autosomica recessiva associata a segni piramidali, nistagmo e aprassia oculomotoria è una malattia neurodegenerativa rara di origine genetica a progressione lenta. È caratterizzata da ritardo dello sviluppo psicomotorio ad esordio infantile, disabilità intellettiva lieve-grave, atassia della postura e dell'andatura, segni piramidali (iperreflessia, risposte plantari in estensione), disartria e anomalie oculari (nistagmo, aprassia oculomotoria, deficit dell'adduzione, esotropia, ptosi). Le immagini diagnostiche del cervello evidenziano un'atrofia cerebellare progressiva generalizzata, una lieve ventricolomegalia e, in alcuni pazienti, la presenza di cisti retro-cerebellari."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - piramidale verschijnselen - nystagmus - oculomotorische apraxie-syndroom","definition":"Een zeldzame, genetische, traag progressieve neurodegeneratieve ziekte, gekarakteriseerd door psychomotorische ontwikkelingsachterstand die aanvangt in de zuigelingentijd, milde tot ernstige intellectuele achterstand, ataxie van gang en houding, piramidale tekenen (hyperreflexie, afwijkende voetzoolreflexen), dysartrie, en oculaire afwijkingen (e.g. nystagmus, oculomotorische apraxie, beperkte abductie, esotropie, ptose). Beeldvorming van de hersenen toont progressieve, gegeneraliseerde cerebellaire atrofie, milde ventriculomegalie en, in sommige gevallen, retrocerebellaire cysten."},"pt":{"name":"Síndrome de ataxia cerebelosa autossómica recessiva-sinais piramidais-nistagmo-apraxia oculomotora"},"pl":{"name":"Autosomalny recesywny zespół ataksja móżdżkowa-objawy piramidowe-oczopląs-apraksja okoruchowa"},"cs":{"name":"Autozomálně recesivní syndrom zahrnující cerebelární ataxii, pyramidové jevy, nystagmus a okulomotorickou apraxii"},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-пірамідних ознак- ністагму-окуломоторної апраксії","definition":"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts."},"zh":{"name":"常染色体隐性小脑共济失调-锥体征-眼球震颤-动眼神经失用综合征","definition":"本病是一种罕见的遗传性缓慢进行性神经退行性疾病，其特征为起始于婴儿期的精神运动发育迟缓、轻至极重度智力障碍、步态和站立位共济失调、锥体束征(反射亢进、足底伸肌反应)、构音障碍和眼部异常(如眼球震颤、动眼神经失用、外展缺陷、内斜视、上睑下垂)。MRI成像显示进行性、全身性小脑萎缩、轻度脑室扩大，某些情况下，还可有小脑后囊肿。"},"tr":{"name":"Otozomal resesif serebellar ataksi-piramidal bulgular-nistagmus-okülomotor apraksi sendromu"}},"xrefs":[{"source":"OMIM","code":"614831","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616204","qualifier":"BTNT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":363432,"name":"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency","type":"Clinical subtype"},{"orpha":324262,"name":"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GRID2","name":"glutamate ionotropic receptor delta type subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23611888[PMID]","hgnc":"4576","ensembl":"ENSG00000152208","omim":"602368","loci":["4q22.1-q22.2"],"via":{"orpha":363432,"name":"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"}},{"symbol":"GRM1","name":"glutamate metabotropic receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22901947[PMID]","hgnc":"4593","ensembl":"ENSG00000152822","omim":"604473","loci":["6q24.3"],"via":{"orpha":324262,"name":"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"22901947[PMID]_24078737[PMID]_23611888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22901947[PMID]_24078737[PMID]_23611888[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"24078737[PMID]_23611888[PMID]_22901947[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","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:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007221","label":"Progressive truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}