{"orpha":497906,"name":"Childhood-onset basal ganglia degeneration syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lenk-Ploski syndrome"],"definition":"A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-497906/","orphanet_url":"https://www.orpha.net/en/disease/detail/497906","names":{"fr":{"name":"Syndrome de dégénerescence des ganglions de la base de l'enfant","synonyms":["Syndrome de Lenk-Ploski"],"definition":"Maladie neurodégénérative génétique rare caractérisée par l'apparition soudaine d'une détérioration motrice progressive et la régression dans les étapes du développement. Les manifestations incluent la dystonie et les spasmes musculaires, la dysphagie, la dysarthrie, et par la suite une perte de la parole et de la mobilité. L'IRM cérébrale révèle principalement des anomalies striatales. La maladie est potentiellement associée à une issue fatale."},"de":{"name":"Basalgangliendegeneration-Syndrom mit Beginn im Kindesalter","synonyms":["Lenk-Ploski-Syndrom"],"definition":"Eine genetisch bedingte neurodegenerative Erkrankung, die durch eine plötzlich einsetzende fortschreitende motorische Verschlechterung und eine Rückbildung der Entwicklungsschritte gekennzeichnet ist. Zu den Manifestationen gehören Dystonie und Muskelkrämpfe, Dysphagie, Dysarthrie und schließlich der Verlust von Sprache und Gehfähigkeit. Die MRT des Gehirns zeigt vor allem striatale Anomalien. Die Krankheit kann potenziell tödlich verlaufen."},"es":{"name":"Síndrome de degeneración de los ganglios basales de inicio en la infancia","synonyms":["Síndrome de Lenk-Ploski"],"definition":"Es una enfermedad neurodegenerativa de origen genético poco frecuente caracterizada por la aparición repentina de un deterioro motor progresivo y regresión de los hitos del desarrollo. Las manifestaciones incluyen distonía y espasmos musculares, disfagia, disartria y, finalmente, pérdida del habla y de la deambulación. La resonancia magnética cerebral muestra anomalías predominantemente estriatales. La enfermedad está asociada a un posible desenlace fatal."},"it":{"name":"Sindrome da degenerazione dei gangli basali ad esordio infantile","definition":"Si tratta di una malattia neurodegenerativa genetica rara, caratterizzata dal progressivo deterioramento motorio ad esordio improvviso e dalla regressione dello sviluppo. I segni clinici comprendono la distonia, gli spasmi muscolari, la disfagia, la disartria e, successivamente, la perdita del linguaggio e della deambulazione. La RMN cerebrale evidenzia per lo più anomalie del corpo striato. La malattia è potenzialmente letale."},"nl":{"name":"Basale ganglia degeneratie syndroom met aanvang in de kindertijd","synonyms":["Syndroom van Lenk-Ploski"],"definition":"Een zeldzame, genetische neurodegeneratieve ziekte, gekarakteriseerd door plotse aanvang van progressieve motorische aftakeling en regressie van ontwikkelingsmijlpalen. Manifestaties zijn onder meer dystonie en spierspasmen, dysfagie, dysartrie, en uiteindelijk verlies van spraak en loopvermogen. MRI van hersenen toont hoofdzakelijk striatale afwijkingen. De ziekte is potentieel geassocieerd met een fatale afloop."},"pt":{"name":"Síndrome de degeneração dos gânglios basais de início na infância"},"pl":{"name":"Zespół deneneracji jąder podstawy mózgu o początku w dzieciństwie","synonyms":["Zespół Lenkego i Ploskiego"]},"cs":{"name":"Syndrom degenerace bazálních ganglií s nástupem v dětském věku","synonyms":["Lenk-Ploski syndrome","Lenk-Ploskiho syndrom"]},"uk":{"name":"Синдром дегенерації базальних гангліїв, що починається в дитинстві","synonyms":["Синдром Ленка-Плоскі"],"definition":"A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome."},"zh":{"name":"儿童发病的基底节退行性变综合征","synonyms":["Lenk-Ploski综合征"],"definition":"一种罕见的遗传性神经退行性疾病，其特征是突然出现的进行性运动退化和发育指标倒退。表现为张力失调和肌肉痉挛、吞咽困难、构音障碍，最终丧失语言能力和行走能力。脑MRI显示主要是纹状体异常。该病可能致命。"},"tr":{"name":"Çocukluk çağı başlangıçlı bazal ganglia dejenerasyon sendromu","synonyms":["Lenk-Ploski sendromu"]}},"xrefs":[{"source":"OMIM","code":"617054","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310743","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":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"VAC14","name":"VAC14 component of PIKFYVE complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27292112[PMID]","hgnc":"25507","ensembl":"ENSG00000103043","omim":"604632","loci":["16q22.1-q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27292112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27292112[PMID]"}],"phenotypes":null}