{"orpha":391411,"name":"Atypical juvenile parkinsonism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391411/","orphanet_url":"https://www.orpha.net/en/disease/detail/391411","names":{"fr":{"name":"Parkinsonisme atypique juvénile","definition":"Forme complexe de la maladie de Parkinson à début précoce se manifestant par des signes d'atteinte pyramidale, des mouvements oculaires anormaux, des troubles psychiatriques (dépression, anxiété, psychose induite par des médicaments et troubles du contrôle des impulsions), une déficience intellectuelle et d'autres troubles neurologiques (ataxie et épilepsie), associés aux signes cliniques typiques du parkinsonisme."},"de":{"name":"Juveniler atypischer Parkinsonismus","synonyms":["Parkinson-Syndrom, atypisches juveniles"],"definition":"Eine komplexe Form der Parkinson-Krankheit bei jungen Patienten, die sich mit pyramidalen Zeichen, Augenbewegungsanomalien, psychiatrischen Manifestationen (Depression, Angst, medikamenteninduzierte Psychose und Impulskontrollstörungen), Intelligenzminderung und anderen neurologischen Symptomen (wie Ataxie und Epilepsie) zusammen mit den klassischen Parkinson-Symptomen manifestiert."},"es":{"name":"Parkinsonismo juvenil atípico","definition":"Es una forma compleja de la enfermedad de Parkinson de inicio temprano (EPIT) que se presenta con signos piramidales, movimientos oculares anomálos, manifestaciones psiquiátricas (depresión, ansiedad, psicosis inducida por fármacos y trastornos del control de los impulsos), discapacidad intelectual y otros síntomas neurológicos (como ataxia y epilepsia) junto con los síntomas parkinsonianos clásicos."},"it":{"name":"Parkinsonismo giovanile atipico","definition":"Il parkinsonismo giovanile atipico è una forma complessa della malattia di Parkinson ad esordio giovanile, che esordisce con segni piramidali, anomalie del movimento oculare, sintomi psichiatrici (depressione, ansia, psicosi indotta dai farmaci e disturbi del controllo degli impulsi), disabilità intellettiva e altri sintomi neurologici (come l'atassia e l'epilessia), associati ai segni clinici tipici del parkinsonismo."},"nl":{"name":"Atypisch juveniel parkinsonisme","definition":"Een complexe vorm van ziekte van Parkinson met aanvang in de jonge volwassenheid (YOPD) die zich manifesteert met piramidale tekenen, afwijkende oogbewegingen, psychiatrische manifestaties (depressie, angst, psychose uitgelokt door druggebruik, en stoornissen van de impulsbeheersing), intellectuele achterstand, en andere neurologische symptomen (zoals ataxie en epilepsie), in combinatie met klassieke symptomen van Parkinson."},"pt":{"name":"Parkinsonismo juvenil atípico"},"pl":{"name":"Atypowy parkinsonizm młodzieńczy"},"cs":{"name":"Atypický juvenilní parkinsonismus"},"uk":{"name":"Атиповий ювенільний паркінсонізм","definition":"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."},"zh":{"name":"非典型青少年帕金森病","definition":"本病是青春期帕金森病的一种复杂形式，表现为锥体束征、眼球运动异常、精神症状(抑郁、焦虑、药物引起的精神病和冲动控制障碍)、智力障碍和其他神经症状(如共济失调和癫痫)以及典型的帕金森症状。"},"tr":{"name":"Atipik jüvenil parkinsonizm"}},"xrefs":[{"source":"OMIM","code":"615528","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":352497,"name":"OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency","status":"inactive"},{"type":"Referred to","orpha":352504,"name":"OBSOLETE: Levodopa-unresponsive juvenile parkinsonism","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"DNAJC6","name":"DnaJ heat shock protein family (Hsp40) member C6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22563501[PMID]_23211418[PMID]","hgnc":"15469","ensembl":"ENSG00000116675","omim":"608375","loci":["1p31.3"]},{"symbol":"PODXL","name":"podocalyxin like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26864383[PMID]","hgnc":"9171","ensembl":"ENSG00000128567","omim":"602632","loci":["7q32.3"]},{"symbol":"SYNJ1","name":"synaptojanin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23804563[PMID]_23804577[PMID]","hgnc":"11503","ensembl":"ENSG00000159082","omim":"604297","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25085748[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":"2017-01-02","source":"23804577[PMID]_23211418[PMID]_22563501[PMID]","terms":[{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007164","label":"Slowed slurred speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012638","label":"Abnormality of nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007311","label":"Short stepped shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null}]}}