{"orpha":363654,"name":"X-linked parkinsonism-spasticity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XPDS"],"definition":"A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363654/","orphanet_url":"https://www.orpha.net/en/disease/detail/363654","names":{"fr":{"name":"Syndrome parkinsonien et spasticité liés à l'X","synonyms":["XPDS"],"definition":"Maladie neurologique génétique rare, caractérisée par des traits parkinsoniens (notamment tremblement de repos ou d'action, rigidité de type roue dentée, hypomimie et bradykinésie) associés à une spasticité à pénétrance variable, à des réflexes tendineux profonds hyperactifs et à un signe de Babinski positif."},"de":{"name":"Parkinsonismus-Spastik-Syndrom, X-chromosomal","synonyms":["XPDS"]},"es":{"name":"Síndrome de parkinsonismo ligado al cromosoma X-espasticidad","synonyms":["XPDS"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por rasgos parkinsonianos (que incluyen temblor en reposo o de acción, rigidez ''en rueda dentada'', hipomimia y bradicinesia) y asociados a espasticidad de penetrancia variable, reflejos osteotendinosos exaltados y signo de Babinski."},"it":{"name":"Sindrome da parkinsonismo spasticità legata all'X","synonyms":["XPDS"],"definition":"La sindrome che associa il parkinsonismo e la spasticità legata all'X è una malattia neurologica genetica rara, caratterizzata dai segni clinici tipici del parkinsonismo (tremore a riposo o d'azione, rigidità ''a ruota dentata'', ipomimia e bradicinesia), associati a spasticità con penetranza variabile, riflessi tendinei profondi iperattivi e segno di Babinski."},"nl":{"name":"X-gebonden parkinsonisme - spasticiteit-syndroom","synonyms":["XPDS"],"definition":"Een zeldzame, genetische, neurologische aandoening, gekarakteriseerd door parkinsoniaanse kenmerken (waaronder rust- of actietremor, tandradfenomeen, hypomimie en bradykinesie) geassocieerd met variabel penetrante spasticiteit, hyperactieve diepe peesreflexen en teken van Babinski."},"pt":{"name":"Síndrome de parkinsonismo – espasticidade, ligada ao cromossoma X"},"pl":{"name":"Zespół parkinsonizm - spastyczność sprzężony z chromosomem X","synonyms":["XPDS"],"definition":"*Zespół parkinsonizm - spastyczność sprzężony z chromosomem X jest rzadkim, genetycznie uwarunkowanym zaburzeniem neurologicznym, który charakteryzuje się objawami parkinsonowskimi (obejmującymi drżenie spoczynkowe lub czynnościowe, sztywność mięśni typu „koła zębatego”, uboga mimika i spowolnienie ruchowe - bradykinezja), którym towarzyszą: spastyczność o zmiennym nasileniu, wygórowane głębokie odruchy ścięgniste i objaw Babińskiego."},"cs":{"name":"X-vázaný syndrom zahrnující parkinsonismus a spasticitu","synonyms":["XPDS"]},"uk":{"name":"Х-зчеплений синдром паркінсонізму-спастичності","synonyms":["XPDS"],"definition":"A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign."},"zh":{"name":"X连锁痉挛性帕金森病","synonyms":["XPDS"],"definition":"本病是一种罕见的遗传性神经疾病，以帕金森氏症为特征(包括静息性或动作性震颤、齿轮僵硬、形觉减退和运动迟缓)，与外显率不一的痉挛、深肌腱反射过度和巴宾斯基征阳性有关。"},"tr":{"name":"X'e bağlı parkinsonizm-spastisite sendromu","synonyms":["XPDS"]}},"xrefs":[{"source":"OMIM","code":"300911","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3806722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"ATP6AP2","name":"ATPase H+ transporting accessory protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23595882[PMID]","hgnc":"18305","ensembl":"ENSG00000182220","omim":"300556","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20629132[PMID]_23595882[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-12","source":"20629132[PMID]","terms":[{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Very frequent (99-80%)","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:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}