{"orpha":100988,"name":"Autosomal dominant spastic paraplegia type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG6"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100988/","orphanet_url":"https://www.orpha.net/en/disease/detail/100988","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 6","synonyms":["SPG6"],"definition":"Forme rare, pure ou complexe de paraplégie spastique héréditaire caractérisée par l'apparition à la fin de l'adolescence ou au début de l'âge adulte d'un phénotype pur de spasticité des membres inférieurs avec une hyperréflexie et un signe de Babinski positif, ainsi que de légers troubles vésicaux et des pieds creux. Dans de rares cas, la maladie peut se manifester sous sa forme complexe, dont les symptômes, en plus de ceux précités, sont une épilepsie, une neuropathie périphérique variable et/ou des troubles de la mémoire."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 6","synonyms":["SPG6"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie, die typischerweise im späten Jugend- oder frühen Erwachsenenalter als reiner Phänotyp einer Spastik der unteren Gliedmaßen mit Hyperreflexie und extensorischen Plantarreflexen sowie leichten Blasenstörungen und <i>Pes cavus</i> auftritt. In seltenen Fällen kann es sich um einen komplexen Phänotyp mit zusätzlichen Manifestationen wie Epilepsie, variablen peripheren Neuropathien und/oder Gedächtnisstörungen handeln."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 6","synonyms":["SPG6"],"definition":"Es una forma poco frecuente, pura o compleja, de paraplejía espástica hereditaria que se caracteriza por presentarse en la adolescencia tardía o en la edad adulta temprana como un fenotipo puro de espasticidad de las extremidades inferiores con hiperreflexia y respuestas plantares extensoras, así como alteraciones leves de la vejiga y <i>pes cavus</i>. Excepcionalmente, puede presentarse como un fenotipo complejo con manifestaciones adicionales que incluyen epilepsia, neuropatía periférica variable y/o alteraciones de la memoria."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 6","definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, che di solito esordisce nella tarda adolescenza o nella prima età adulta con un fenotipo puro, caratterizzato da spasticità degli arti inferiori con iperreflessia e risposte plantari in estensione, modesta disfunzione vescicale e piede cavo. Di rado, può manifestarsi con un fenotipo complesso, caratterizzato da altri segni clinici, che comprendono l'epilessia, la neuropatia periferica di gravità variabile e/o i deficit mnemonici."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 6","synonyms":["SPG6"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie, doorgaans gekenmerkt door presentatie in de late adolescentie of vroege volwassenheid als een zuiver fenotype van spasticiteit van onderste ledematen met hyperreflexie en pathologische voetzoolreflexen, alsook milde blaasstoornissen en <i>pes cavus</i>(holvoet). In zeldzame gevallen kan de ziekte zich uiten als een complex fenotype met bijkomende manifestaties waaronder epilepsie, variabele perifere neuropathie en/of geheugenstoornis."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 6","synonyms":["SPG6"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária tipicamente caracterizada por apresentação no final da adolescência ou início da idade adulta como um fenótipo de espasticidade pura dos membros inferiores com hiperreflexia e respostas plantares extensoras, e distúrbios leves da bexiga e pés cavos. É raro apresentar-se com um fenótipo complexo e manifestações adicionais, incluindo epilepsia, neuropatia periférica variável e/ou compromisso da memória."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 6","synonyms":["Autosomalna dominująca rodzinna paraplegia spastyczna typu 3","SPG6"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 6","synonyms":["SPG6","Autozomálně dominantní familiární spastická paraplegie, typ 3"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 6","synonyms":["SPG6"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment."},"zh":{"name":"常染色体显性遗传痉挛性截瘫6型","synonyms":["SPG6"],"definition":"常染色体显性遗传性痉挛性截瘫6型是一种罕见的遗传性痉挛性截瘫，通常出现在青春期晚期或成年早期，表现为下肢痉挛，伴有反射亢进和足底伸肌反应，以及轻度膀胱紊乱和高弓足。罕见的是，它可以表现为复杂的表型，并伴有其他表现，包括癫痫、可变性周围神经病变和/或记忆障碍。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 6","synonyms":["SPG6"]}},"xrefs":[{"source":"OMIM","code":"600363","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"434114972"},{"source":"MONDO","code":"0010878","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838192","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4928","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NIPA1","name":"NIPA magnesium transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14508710[PMID]_15643603[PMID]","hgnc":"17043","ensembl":"ENSG00000170113","omim":"608145","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2018-02-13","source":"7854534[PMID]_15711826[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010505","label":"Limitation of movement at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}