{"orpha":171607,"name":"X-linked spastic paraplegia type 34","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG34"],"definition":"X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171607/","orphanet_url":"https://www.orpha.net/en/disease/detail/171607","names":{"fr":{"name":"Paraplégie spastique liée à l'X type 34","synonyms":["SPG34"],"definition":"La paraplégie spastique liée à l'X type 34 est une forme pure de paraplégie spastique héréditaire. Elle se caractérise par l'apparition, de la fin de l'enfance au début de l'âge adulte, d'une paraplégie spastique lentement progressive avec une démarche spastique et une hyperréflexie des membres inférieurs, des réflexes tendineux brusques et un clonus de la cheville. Une douleur des membres inférieurs est aussi rapportée chez certains patients plus âgés, ainsi qu'une diminution de la sensation des vibrations par les membres inférieurs."},"de":{"name":"Spastische Paraplegie, X-chromosomale, Typ 34","synonyms":["SPG34"],"definition":"Die X-chromosomale spastische Paraplegie Typ 34 ist eine reine Form der hereditären spastischen Paraplegie, die durch das Auftreten einer langsam fortschreitenden spastischen Paraplegie im späten Kindes- bis frühen Erwachsenenalter mit spastischem Gang und Hyperreflexie der unteren Gliedmaßen, lebhaften Sehnenreflexen und Knöchelklonus gekennzeichnet ist. Schmerzen in den unteren Gliedmaßen und ein vermindertes Vibrationsempfinden der unteren Gliedmaßen werden auch bei einigen älteren erwachsenen Patienten berichtet."},"es":{"name":"Paraplejía espástica ligada al cromosoma X tipo 34","definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por la aparición, en la infancia tardía o en la edad adulta temprana, de paraplejía espástica lentamente progresiva con marcha espástica e hiperreflexia de los miembros inferiores, reflejos tendinosos exaltados y clonus aquileo. También se ha descrito en algunos adultos ya mayores, dolor en las extremidades inferiores y disminución de la sensiblidad vibratoria en los miembros inferiores"},"it":{"name":"Paraplegia spastica legata all'X, tipo 34","synonyms":["SPG34"],"definition":"La paraplegia spastica legata all'X tipo 34 è una forma pura di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta associata ad andatura spastica e iperreflessia degli arti inferiori, velocizzazione dei riflessi tendinei e clonie alle caviglie; l'esordio varia tra l'infanzia e la prima età adulta. Alcuni pazienti adulti più anziani presentano dolore agli arti inferiori e una riduzione del senso della vibrazione negli arti inferiori."},"nl":{"name":"X-gebonden spastische paraplegie type 34","synonyms":["SPG34"],"definition":"X-gebonden spastische paraplegie type 34 is een zuivere vorm van erfelijke spastische paraplegie die wordt gekarakteriseerd door aanvang in de late kindertijd tot vroege volwassenheid van traag progressieve spastische paraplegie met spastische gang en hyperreflexie van de onderste ledematen, snelle peesreflexen en enkelclonus. Bij sommige oudere volwassen patiënten worden ook pijn in de onderste ledematen en een gereduceerd waarnemingsvermogen van vibraties in de onderste ledematen gerapporteerd."},"pt":{"name":"Paraplegia espástica ligada ao X tipo 34","synonyms":["SPG34"]},"pl":{"name":"Paraplegia spastyczna sprzężona z chromosomem X typu 34","synonyms":["SPG34"]},"cs":{"name":"X-vázaná spastická paraplegie, typ 34","synonyms":["SPG34"]},"uk":{"name":"Х-зчеплена спастична параплегія, тип 34","synonyms":["SPG34"],"definition":"X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients."},"zh":{"name":"X连锁痉挛性截瘫34型","synonyms":["SPG34"],"definition":"X连锁痉挛性截瘫34型是一种单纯的遗传性痉挛性截瘫，其主要临床表现为缓慢进行性痉挛性截瘫，伴有痉挛性步态和下肢反射亢进，表现为腱反射亢进和踝阵挛，部分老年患者出现下肢疼痛和下肢振动觉障碍，发病年龄多在儿童晚期至成年早期，"},"tr":{"name":"X'e bağlı spastik parapleji tip 34","synonyms":["SPG34"]}},"xrefs":[{"source":"OMIM","code":"300750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075495048"},{"source":"MONDO","code":"0010418","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677897","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320332,"name":"X-linked pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG34","name":"spastic paraplegia 34 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"32944","ensembl":null,"omim":null,"loci":["reserved"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"1084423[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1084423[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-24","source":"18463901[PMID]","terms":[{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null}]}}