{"orpha":521406,"name":"Dystonia-parkinsonism-hypermanganesemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521406/","orphanet_url":"https://www.orpha.net/en/disease/detail/521406","names":{"fr":{"name":"Syndrome de dystonie-parkinsonisme-hypermanganésémie","definition":"Anomalie rare du transport du manganèse caractérisée par un trouble progressif du mouvement et des taux élevés de manganèse dans le sang. Les patients manifestent dans l'enfance ou la petite enfance une absence des étapes du développement moteur, une dystonie rapidement progressive, une spasticité, un dysfonctionnement bulbaire et un parkinsonisme, entraînant une perte de la mobilité. La cognition peut être altérée, mais est généralement mieux préservée que la fonction motrice. Les autres signes incluent une croissance anormale de la tête et des malformations du crâne. L'IRM met en évidence des anomalies des ganglions de la base et, de façon variable, d'autres régions du cerveau."},"de":{"name":"Dystonie-Parkinsonismus-Hypermanganämie-Syndrom","definition":"Eine seltene Störung des Mangantransports, die durch eine fortschreitende Bewegungsstörung und erhöhte Manganwerte im Blut gekennzeichnet ist. Die Patienten zeigen im Säuglingsalter oder in der frühen Kindheit einen Verlust motorischer Meilensteine, schnell fortschreitende Dystonie, Spastizität, bulbäre Dysfunktion und Parkinsonismus, was zum Verlust des unabhängigen Gehens führt. Die Kognition kann beeinträchtigt sein, ist aber im Allgemeinen besser erhalten als die motorischen Funktionen. Zu den weiteren Erscheinungsformen gehören abnormales Kopfwachstum und Fehlbildungen des Schädels. Die MRT-Untersuchung des Gehirns zeigt Anomalien der Basalganglien und in einigen Fällen auch anderer Hirnregionen."},"es":{"name":"Síndrome de distonía-parkinsonismo-hipermanganesemia","definition":"Es un trastorno poco frecuente del transporte de manganeso caracterizado por un trastorno progresivo del movimiento y unos niveles elevados de manganeso en sangre. Los pacientes se presentan en la lactancia o en la infancia temprana con pérdida de hitos del desarrollo motor, distonía rápidamente progresiva, espasticidad, disfunción bulbar y parkinsonismo, resultando en la pérdida de la deambulación independiente. La cognición puede verse afectada, aunque por lo general está mejor conservada que la función motora. Otras manifestaciones adicionales incluyen un crecimiento cefálico anómalo y deformidades craneales. La resonancia magnética cerebral muestra anomalías de los ganglios basales y, de manera variable, también de otras regiones cerebrales."},"it":{"name":"Sindrome distonia - parkinsonismo - ipermanganesemia","definition":"Si tratta di un'anomalia rara del trasporto del manganese, caratterizzata da un disturbo progressivo del movimento e da livelli elevati di manganese nel sangue. Nel periodo neonatale o nella prima infanzia, i pazienti presentano ritardo dello sviluppo motorio, distonia a progressione rapida, spasticità, disfunzione bulbare e parkinsonismo, che esitano nella perdita della deambulazione indipendente. Le abilità cognitive possono essere compromesse, ma in genere sono maggiormente preservate rispetto alla funzione motoria. Altri segni clinici comprendono le anomalie della crescita e le deformità del cranio. La RMN cerebrale mostra anomalie dei gangli basali e di altre regioni."},"nl":{"name":"Dystonie - parkinsonisme - hypermanganesemie-syndroom","definition":"Een zeldzame aandoening van mangaantransport, gekarakteriseerd door progressieve bewegingsstoornis en verhoogde mangaangehaltes in bloed. Patiënten presenteren zich in de zuigelingentijd of vroege kindertijd met verlies van motorische mijlpalen, snel progressieve dystonie, spasticiteit, bulbaire disfunctie, en parkinsonisme, met verlies van zelfstandig loopvermogen tot gevolg. Cognitie kan verstoord zijn, maar blijft doorgaans beter bewaard dan motorische functie. Bijkomende manifestaties zijn onder meer abnormale groei van hoofd en misvormingen van schedel. MRI van hersenen toont afwijkingen van basale ganglia, en afwisselend ook van andere hersengebieden."},"pt":{"name":"Síndrome de distonia-parkinsonismo-hipermanganesémia"},"pl":{"name":"Zespół dystonii-choroby Parkinsona-hipermagnezemii"},"cs":{"name":"Syndrom zahrnující dystonii, parkinsonismus a hypermanganémii"},"uk":{"name":"Синдром дистонії-паркінсонізму-гіпермарганцемії","definition":"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions."},"zh":{"name":"肌张力障碍-帕金森症-高锰血症综合征","definition":"一种罕见的锰转运障碍，以进行性运动障碍和血锰水平升高为特征。患者在婴幼儿期或儿童早期出现运动指标降低，快速进行性肌张力障碍、痉挛、延髓功能障碍和帕金森病，导致丧失独立行走能力。认知能力可能受损，但一般比运动功能保存得好。其他表现包括头部发育异常和颅骨畸形。脑MRI显示基底节异常，其他脑区也有不同程度的异常。"},"tr":{"name":"Distoni-parkinsonizm-hipermanganezemi sendromu"}},"xrefs":[{"source":"OMIM","code":"617013","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309851,"name":"Disorder of manganese transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC39A14","name":"solute carrier family 39 member 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29382362[PMID]_29685658[PMID]_27231142[PMID]","hgnc":"20858","ensembl":"ENSG00000104635","omim":"608736","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"29382362[PMID]_29685658[PMID]_27231142[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29382362[PMID]_29685658[PMID]_27231142[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"29382362[PMID]_29685658[PMID]_27231142[PMID]","terms":[{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032097","label":"Hypermanganesemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null}]}}