{"orpha":500180,"name":"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CONDBA"],"definition":"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500180/","orphanet_url":"https://www.orpha.net/en/disease/detail/500180","names":{"fr":{"name":"Syndrome de régression motrice et cognitive de l'enfance avec syndrome extrapyramidal","definition":"Maladie neurodégénérative génétique rare caractérisée par l'apparition dans l'enfance d'une régression motrice et cognitive lentement progressive, à l'origine d'une déficience intellectuelle et d'une perte du langage et de la mobilité, associées à l'apparition d'une dystonie, d'un parkinsonisme, d'une chorée ou d'une rigidité. Une ataxie, une dysarthrie et des crises convulsives ont également été rapportées. La circonférence crânienne peut diminuer avec le temps. L'IRM met en évidence une atrophie cérébrale et cérébelleuse progressive, et chez certains patients, un amincissement du corps calleux."},"de":{"name":"Im Kindesalter beginnendes motorisches und kognitives Regressions-Syndrom mit extrapyramidaler Bewegungsstörung","synonyms":["CONDBA","Im Kindesalter auftretende Neurodegeneration mit Hirnatrophie"],"definition":"Eine genetisch bedingte neurodegenerative Erkrankung, die durch eine langsam fortschreitende motorische und kognitive Regression in der Kindheit gekennzeichnet ist, die zu Intelligenzminderung und Verlust von Sprache und Gehfähigkeit führt und mit dem Auftreten von Dystonie, Parkinsonismus, Chorea oder Rigidität einhergeht. Es wurde auch über Ataxie, Dysarthrie und Krampfanfälle berichtet. Der prozentuale Kopfumfang kann im Laufe der Zeit abnehmen. Die Bildgebung des Gehirns zeigt eine fortschreitende zerebrale und zerebelläre Atrophie, bei einigen Patienten auch eine Ausdünnung des Corpus Callosum."},"es":{"name":"Síndrome de regresión cognitiva y motora de inicio en la infancia con trastorno extrapiramidal del movimiento","synonyms":["CONDBA"],"definition":"Es una enfermedad neurodegenerativa genética poco frecuente caracterizada por una regresión motora y cognitiva lentamente progresiva de inicio en la infancia, que progresa a discapacidad intelectual y pérdida del lenguaje y de la deambulación, asociada a la aparición de distonía, parkinsonismo, corea o rigidez. También se ha descrito ataxia, disartria y crisis epilépticas. El percentil del perímetro cefálico puede disminuir con el tiempo. La neuroimagen muestra una atrofia cerebral y cerebelosa progresiva, y en algunos pacientes también se observa un adelgazamiento del cuerpo calloso."},"it":{"name":"Regressione motoria e cognitiva ad esordio infantile associata ad anomalie del movimento extrapiramidale","definition":"Si tratta di una malattia neurodegenerativa genetica rara, caratterizzata da regressione motoria e cognitiva ad esordio infantile e a progressione lenta, che esita nella disabilità intellettiva e nella perdita del linguaggio e della deambulazione, associate a distonia, parkinsonismo, corea o rigidità. I pazienti possono presentare anche atassia, disartria e crisi epilettiche. I percentili della circonferenza cranica possono diminuire nel tempo. Le neuroimmagini mostrano atrofia cerebrale e cerebellare progressive e, in alcuni pazienti, l'assottigliamento del corpo calloso."},"nl":{"name":"Syndroom van motorische en cognitieve regressie met aanvang in de kindertijd en met extrapiramidale bewegingsstoornis","synonyms":["CONDBA"],"definition":"Een zeldzame, genetische neurodegeneratieve ziekte, gekarakteriseerd door aanvang in de kindertijd van traag progressieve motorische en cognitieve regressie, met als gevolg intellectuele beperking en verlies van taal en loopvermogen, geassocieerd met optreden van dystonie, parkinsonisme, chorea, of rigiditeit. Ataxie, dysartrie, en insulten werden ook reeds gerapporteerd. Mettertijd kan er daling zijn van percentiel voor hoofdomtrek. Beeldvorming van hersenen toont progressieve cerebrale en cerebellaire atrofie, en bij sommige patiënten ook verdunning van corpus callosum."},"pt":{"name":"Síndrome de regressão motora e cognitiva de início na infância com doença do movimento extrapiramidal","synonyms":["CONDBA"]},"pl":{"name":"Zespół regresji poznawczej i ruchowej z pozapiramidowymi zaburzeniami ruchu o początku w dzieciństwie","synonyms":["CONDBA"]},"cs":{"name":"Regresní syndrom s extrapyramidovou hybnou poruchou s nástupem v dětství","synonyms":["CONDBA"]},"uk":{"name":"Синдром моторної та когнітивної регресії з екстрапірамідними руховими розладами, що почався в дитинстві","definition":"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum."},"zh":{"name":"儿童期起病的认知倒退综合征合并锥体外束运动障碍","definition":"一种罕见的遗传性神经退行性疾病，其特点是儿童期运动和认知开始缓慢进行性退行，导致智力障碍和语言及活动能力丧失，与肌张力障碍、帕金森病、舞蹈症或僵直的出现相关。共济失调、构音障碍和癫痫发作也有报道。头围百分位数可随时间下降。脑影像学检查显示，脑和小脑进行性萎缩，有些患者还伴有胼胝体变薄。"},"tr":{"name":"Ekstrapiramidal hareket bozukluğu ile seyreden çocukluk çağı başlangıçlı motor ve bilişsel gerileme sendromu"}},"xrefs":[{"source":"OMIM","code":"617672","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567227","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13658","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"UBTF","name":"upstream binding transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"28777933[PMID]","hgnc":"12511","ensembl":"ENSG00000108312","omim":"600673","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28777933[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28777933[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-20","source":"28777933[PMID]_29300972[PMID]_31931739[PMID]_30517966[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}