{"orpha":90020,"name":"Parkinson-dementia complex of Guam","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["G-PDC","Guam disease","Guam parkinsonism-dementia complex","Lytico-Bodig disease"],"definition":"A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90020/","orphanet_url":"https://www.orpha.net/en/disease/detail/90020","names":{"fr":{"name":"Complexe Parkinson-démence de Guam","synonyms":["Complexe parkinsonisme-démence de Guam","Maladie de Guam","Maladie de Lytico-Bodig"],"definition":"Maladie neurodégénérative rare caractérisée par des symptômes extrapyramidaux (rigidité, tremblements, bradykinésie) et une démence, débutant typiquement dans la cinquième ou sixième décennie de vie, évoluant en quelques années vers un état végétatif et une rigidité de l'appareil pelvicrural. Des troubles oculomoteurs, un dysfonctionnement olfactif et des perturbations du système nerveux autonome peuvent également être observés. Les anomalies neuropathologiques sont une atrophie cérébrale accentuée par une dégénérescence fronto-temporale, ainsi que des enchevêtrements neurofibrillaires et une perte neuronale avec une distribution caractéristique dans les régions corticale et sous-corticale. La maladie est endémique à l'île de Guam, dans le Pacifique."},"de":{"name":"Guam-Parkinson-Demenz-Komplex","synonyms":["G-PDC","Guam-Krankheit","Lytico-Bodig-Krankheit"],"definition":"Eine seltene neurodegenerative Erkrankung mit extrapyramidalen Symptomen (Rigor, Tremor, Bradykinesie) und Demenz, die typischerweise im 5. oder 6. Lebensjahrzehnt beginnt und innerhalb weniger Jahre zu einem vegetativen Zustand mit Kontrakturen der Beckenbodenmuskulatur führt. Okulomotorische Symptome, Riechstörungen und autonome Störungen können ebenfalls beobachtet werden. Neuropathologische Merkmale sind eine frontotemporal betonte zerebrale Atrophie sowie neurofibrilläre Bündel und neuronaler Verlust mit einer charakteristischen Verteilung in kortikalen und subkortikalen Regionen. Die Krankheit ist auf der Pazifikinsel Guam endemisch."},"es":{"name":"Complejo Parkinson-demencia de Guam","synonyms":["Compejo parkinsonismo-demencia de Guam","Enfermedad 'Lytico-Bodig'","Enfermedad de Guam"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por síntomas extrapiramidales (rigidez, temblor, bradicinesia) y demencia, que suele comenzar en la quinta o sexta década de la vida y que evoluciona hacia un estado vegetativo con contracturas pelvicrurales en flexión en pocos años. También puede observarse signos oculomotores, disfunción olfativa y alteraciones autonómicas. Las características neuropatológicas son la atrofia cerebral que afecta principalmente a los lóbulos frontotemporales los ovillos neurofibrilares y la pérdida neuronal, que muestra una distribución característica en regiones corticales y subcorticales. La enfermedad es endémica en Guam, una isla del Océano Pacífico."},"it":{"name":"Complesso Parkinson-demenza di Guam","synonyms":["Complesso parkinsonismo-demenza di Guam","G-PDC","Malattia \"Lytico-bodig\"","Malattia di Guam"],"definition":"Si tratta di una malattia neurodegenerativa rara, caratterizzata da sintomi extrapiramidali (rigidità, tremore, bradicinesia) e demenza, che di solito esordisce nella quinta o sesta decade di vita, e progredisce verso lo stato vegetativo con contratture pelvi-crurali in flessione nell'arco di pochi anni. I pazienti possono presentare anche segni oculomotori, disfunzione olfattiva e disturbi del sistema autonomo. Dal punto di vista neuropatologico, si osservano atrofia cerebrale più marcata nella regione fronto-temporale, grovigli neurofibrillari e perdita neuronale, in genere localizzati nelle regioni corticali e sottocorticali. La malattia è endemica nell'isola di Guam, nell'Oceano Pacifico."},"nl":{"name":"Parkinson - dementie-complex van Guam","synonyms":["G-PDC","Parkinsonisme - dementie-complex van Guam","Ziekte van Guam","Ziekte van Lytico-Bodig"],"definition":"Een zeldzame neurodegeneratieve aandoening, gekenmerkt door extrapiramidale symptomen (rigiditeit, tremor, bradykinesie) en dementie, doorgaans met een aanvang in het vijfde of zesde levensdecennium en progressie naar een vegetatieve toestand met flexiecontracturen van bekken binnen enkele jaren. Oculomotorische verschijnselen, olfactorische disfunctie, en autonome stoornissen worden mogelijk ook waargenomen. Neuropathologische kenmerken zijn frontotemporaal geaccentueerde cerebrale atrofie, alsook neurofibrillaire degeneratie en verlies van neuronen volgens een karakteristieke verdeling in corticale en subcorticale regio's. De ziekte is endemisch voor het eiland Guam in de Stille Oceaan."},"pt":{"name":"Complexo de Parkinson-demência de Guam"},"pl":{"name":"Kompleks stwardnienie zanikowe boczne -parkinsonizm-demencja","synonyms":["Choroba Guama","Choroba Lytico i Bodiga","Kompleks parkinsonizm-demencja-ALS","PDALS","Stwardnienie zanikowe boczne -parkinsonizm-demencja Guama"]},"cs":{"name":"Komplex zahrnující amyotrofickou laterální sklerózu, parkinsonismus a demenci","synonyms":["Amyotrofická laterální skleróza, parkinsonismus a demence u nemoci ostrova Guam","Nemoc ostrova Guam","Lytico-Bodig syndrom","PDALS","Komplex zahrnující parkinsonismus, demenci a ALS","Guamská forma ALS"]},"uk":{"name":"Комплекс паркінсонізму та деменції Гуаму","synonyms":["G-PDC","Гуамська хвороба","Гуамський комплекс паркінсонізму та деменції","Хвороба Літіко-Бодіга"],"definition":"A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam."},"zh":{"name":"肌萎缩侧索硬化症-帕金森症-痴呆综合征","synonyms":["肌萎缩性脊髓侧索硬化-帕金森症-Guam痴呆综合征"]},"tr":{"name":"Amyotrofik lateral skleroz-parkinsonizm-demans kompleksi","synonyms":["PDALS","Guam hastalığı","Lytico-Bodig hastalığı","Parkinsonizm-demans-ALS kompleksi","Amiyotrofik lateral skleroz-parkinsonizm-Guam sendromu demansı"]}},"xrefs":[{"source":"OMIM","code":"105500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"6D85.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"824698036"},{"source":"MONDO","code":"0007104","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0543859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9239","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"PARK7","name":"Parkinsonism associated deglycase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"16369","ensembl":"ENSG00000116288","omim":"602533","loci":["1p36.23"]},{"symbol":"TRPM7","name":"transient receptor potential cation channel subfamily M member 7","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"17994","ensembl":"ENSG00000092439","omim":"605692","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}