{"orpha":157946,"name":"Huntington disease-like 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HDL3"],"definition":"Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157946/","orphanet_url":"https://www.orpha.net/en/disease/detail/157946","names":{"fr":{"name":"Maladie de Huntington-like 3","synonyms":["HDL3"],"definition":"Syndrome pseudo-Huntington rare, caractérisé par une détérioration neurologique progressive survenant pendant l'enfance, accompagnée de signes d'atteinte pyramidale et extrapyramidale, d'une chorée, d'une dystonie, d'une ataxie, d'une démarche instable, d'une spasticité, de crises convulsives, d'un mutisme, l'IRM cérébrale mettant par ailleurs en évidence une atrophie corticale frontale progressive et une atrophie bilatérale du noyau caudé."},"de":{"name":"Chorea Huntington-ähnliche Krankheit 3","synonyms":["HDL3"]},"es":{"name":"Enfermedad similar a Huntington, tipo 3","synonyms":["Enfermedad de Huntington-like, tipo 3","HDL3"],"definition":"Es un síndrome poco frecuente similar a la enfermedad de Huntington que se caracteriza por deterioro neurológico progresivo de inicio en la infancia, con signos piramidales y extrapiramidales, corea, distonía, ataxia, inestabilidad de la marcha, espasticidad, crisis comiciales, mutismo, así como atrofia cortical frontal progresiva y atrofia caudal bilateral observables en imágenes de resonancia magnética cerebral."},"it":{"name":"Malattia Huntington-simile 3","synonyms":["HDL3"],"definition":"La malattia Huntington-simile 3 è una sindrome rara simile alla malattia di Huntington, che esordisce nell'infanzia con deterioramento neurologico progressivo associato ad anomalie piramidali ed extrapiramidali, corea, distonia, atassia, instabilità dell'andatura, spasticità, crisi epilettiche e mutismo. La RMN cerebrale evidenzia atrofia corticale frontale progressiva ed atrofia bilaterale del nucleo caudato."},"nl":{"name":"Ziekte van Huntington-achtig 3","synonyms":["HDL3"],"definition":"Huntington-achtige ziekte 3 is een zeldzaam Huntington ziekte-achtig syndroom dat gekarakteriseerd wordt door in de kindertijd aanvangende progressieve neurologische aftakeling met piramidale en extrapiramidale afwijkingen, chorea, dystonie, ataxie, ganginstabiliteit, spasticiteit, insulten, mutisme, en (op MRI van de hersenen) progressieve frontale corticale atrofie en bilaterale atrofie van de nucleus caudatus."},"pt":{"name":"Doença de Huntington-like 3"},"pl":{"name":"Choroba podobna do choroby Huntingtona typu 3","synonyms":["HDL3"],"definition":"*Choroba podobna do choroby Huntingtona typu 3 jest rzadkim zespołem podobnym do choroby Huntingtona, który rozpoczyna się w dzieciństwie i charakteryzuje postępującym pogorszeniem stanu neurologicznego z objawami piramidowymi i pozapiramidowymi, pląsawicą, dystonią, ataksją, niestabilnością chodu, spastycznością, drgawkami, mutyzmem oraz (w MRI mózgu) postępującym zanikiem korowy czołowej i obustronnym zanikiem jądra ogoniastego."},"cs":{"name":"Syndrom podobný Huntingtonově chorobě 3","synonyms":["HDL3"]},"uk":{"name":"Хвороба Гентингтон-подібна 3","synonyms":["HDL3"],"definition":"Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy."},"zh":{"name":"类亨廷顿病3","synonyms":["HDL3"],"definition":"亨廷顿病样3型是一种罕见的亨廷顿病样综合征，其特征是儿童时期起病的进行性神经恶化伴锥体和锥体外系异常，舞蹈症，肌张力障碍，共济失调，步态不稳，痉挛，惊厥，缄默症，以及进行性额叶皮质萎缩和双侧尾状回萎缩(脑MRI可见)。"},"tr":{"name":"Huntington hastalığı-benzeri 3","synonyms":["HDL3"]}},"xrefs":[{"source":"OMIM","code":"604802","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"839962814"},{"source":"MONDO","code":"0011487","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-07","source":"27605280[PMID]_10677304[PMID]","terms":[{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007308","label":"Extrapyramidal dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007076","label":"Extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005327","label":"Loss of facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","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:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null}]}}