{"orpha":99015,"name":"Spastic paraplegia type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG2","Spastic gait type 2","Spastic paraparesis type 2","X-linked spastic paraplegia type 2"],"definition":"A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99015/","orphanet_url":"https://www.orpha.net/en/disease/detail/99015","names":{"fr":{"name":"Paraplégie spastique type 2","synonyms":["Démarche spastique type 2","Paraparésie spastique type 2","Paraplégie spastique liée à l'X type 2","SPG2"],"definition":"La paraplégie spastique de type 2 (SPG2) est une leucodystrophie liée au chromosome X, caractérisée principalement par une démarche spastique et un trouble neuro-végétatif. On parle de SPG complexe lorsque d'autres signes touchant le système nerveux central (SNC) sont présents, comme un déficit intellectuel, une ataxie, ou des signes extrapyramidaux."},"de":{"name":"Spastische Paraplegie Typ 2","synonyms":["SPG2","Spastische Paraparese Typ 2","Spastische Paraplegie, X-chromosomale, Typ 2"],"definition":"Die Spastische Paraplegie Typ 2, eine X-chromosomale Leukodystrophie, ist gekennzeichnet durch spastischen Gang und autonome Dysfunktion. Mit zusätzlichen zentralnervösen Symptomen (intellektuelles Defizit, Ataxie, extrapyramidale Zeichen), wird das Syndrom als Komplizierte SPG bezeichnet."},"es":{"name":"Paraplejía espástica tipo 2","synonyms":["Marcha espástica tipo 2","Paraplejía espástica ligada al cromosoma X tipo 2","SPG2"],"definition":"Es una leucodistrofia ligada al cromosoma X caracterizada principalmente por marcha espástica y disfunción autonómica. Cuando están presentes síntomas adicionales del sistema nervioso central (SNC), como retraso mental, ataxia, o síntomas extrapiramidales, el síndrome se conoce como SPG complicada."},"it":{"name":"Paraplegia spastica, tipo 2","synonyms":["Deambulazione spastica, tipo 2","Paraparesi spastica, tipo 2","Paraplegia spastica legata all'X, tipo 2","SPG2"],"definition":"La paraplegia spastica tipo 2 (SPG2) è una leucodistrofia legata all'X caratterizzata prevalentemente da andatura spastica e disfunzione del sistema autonomo. In presenza di altri segni che interessano il sistema nervoso centrale (SNC), come il deficit cognitivo, l'atassia o i segni extrapiramidali, la sindrome viene definita SPG complicata."},"nl":{"name":"Spastische paraplegie type 2","synonyms":["SPG2","Spastische gang type 2","Spastische paraparese type 2","X-gebonden spastische paraplegie type 2"],"definition":"Een zeldzame, X-gebonden leukodystrofie voornamelijk gekarakteriseerd door spastische gang en autonome disfunctie. Wanneer bijkomende verschijnselen aan het centrale zenuwstelsel (CZS) aanwezig zijn, zoals intellectuele achterstand, ataxie, of extrapiramidale tekenen, wordt het syndroom gecompliceerde SPG genoemd."},"pt":{"name":"Paraplegia espástica tipo 2","synonyms":["Paraparesia espástica tipo 2","Paraplegia espástica ligada ao X tipo 2","SPG2"],"definition":"A paraplegia espástica tipo 2 (SPG2) é uma leucodistrofia ligada ao X caracterizada principalmente por marcha espástica e disfunção autonómica. Quando estão presentes sinais adicionais do sistema nervoso central (SNC), tais como atraso mental, ataxia ou sinais extrapiramidais a síndrome é referida como SPG complicada."},"pl":{"name":"Paraplegia spastyczna typu 2","synonyms":["Chód spastyczny typu 2","Parapareza spastyczna typu 2","Paraplegia spastyczna typu 2 sprzężona z chromosomem X","SPG2"]},"cs":{"name":"Spastická paraplegie, typ 2","synonyms":["SPG2","Spastická paraparéza, typ 2","X-vázaná spastická paraplegie, typ 2","Spastická chůze, typ 2"]},"uk":{"name":"Спастична параплегія, тип 2","synonyms":["Спастичний тип ходи 2","Спастичний парапарез 2 типу","SPG2","Х-зчеплена спастична параплегія типу 2"],"definition":"A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG."},"zh":{"name":"遗传痉挛性截瘫2型","synonyms":["X连锁痉挛性截瘫2型"],"definition":"该病是一种罕见的X-连锁脑白质营养不良，主要表现为步态痉挛和自主神经功能障碍，当出现其他中枢神经系统(CNS)症状，如智力障碍、共济失调或锥体外系征时，该综合征称为复杂SPG。"},"tr":{"name":"Spastik parapleji tip 2","synonyms":["SPG2","Spastik yürüyüş şekli tip 2","Spastik paraparezi tip 2","X'e bağlı spastik parapleji tip 2"]}},"xrefs":[{"source":"OMIM","code":"312920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1847361827"},{"source":"MONDO","code":"0010733","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4923","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":320350,"name":"Pure or complex X-linked spastic paraplegia","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PLP1","name":"proteolipid protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301361[PMID]","hgnc":"9086","ensembl":"ENSG00000123560","omim":"300401","loci":["Xq22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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":"2016-06-01","source":"20301361[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005340","label":"Spastic/hyperactive bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}