{"orpha":320365,"name":"Autosomal dominant spastic paraplegia type 36","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG36"],"definition":"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320365/","orphanet_url":"https://www.orpha.net/en/disease/detail/320365","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 36","synonyms":["SPG36"],"definition":"La paraplégie spastique autosomique dominante type 36 (SPG36) est une forme complexe de paraplégie spastique héréditaire, caractérisée par l'apparition pendant l'enfance ou à l'âge adulte d'une paraplégie spastique progressive (avec une démarche spastique, une faiblesse des membres inférieurs, des pieds creux et une urgence urinaire), ainsi que des signes additionnels de neuropathie sensorimotrice périphérique."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 36","synonyms":["SPG36"],"definition":"Eine komplexe Form der hereditären spastischen Paraplegie mit Beginn im Kindes- oder Erwachsenenalter. Sie ist gekennzeichnet durch progressive spastische Paraplegie (mit spastischem Gang, Spastik, Schwäche der unteren Gliedmaßen, Pes cavus und Harndrang) in Verbindung mit einer peripheren sensomotorischen Neuropathie."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 36","synonyms":["SPG36"],"definition":"Es una forma compleja de paraplejía espástica hereditaria de inicio en la infancia o en la edad adulta caracterizada por paraplejía espástica progresiva (con marcha espástica, espasticidad, debilidad de miembros inferiores, pie cavo y urgencia urinaria) asociada con la manifestación adicional de neuropatía sensitivo-motora periférica."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 36","synonyms":["SPG36"],"definition":"La paraplegia spastica autosomica dominante tipo 36 (SPG36) è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da paraplegia spastica progressiva, ad esordio nell'infanzia o nell'età adulta, con andatura spastica, spasticità, debolezza degli arti inferiori, piede cavo e incontinenza minzionale, associati a neuropatia sensitivo-motoria periferica."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 36","synonyms":["SPG36"],"definition":"Een complexe vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de kindertijd of volwassenheid van progressieve spastische paraplegie (met spastische gang, spasticiteit, zwakte van onderste ledematen, pes cavus (holvoet) en urinaire urgentie), geassocieerd met perifere sensomotorische neuropathie als bijkomende manifestatie."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 36"},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 36","synonyms":["SPG36"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 36","synonyms":["SPG36"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 36","synonyms":["SPG36"],"definition":"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy."},"zh":{"name":"常染色体显性遗传痉挛性截瘫36型","synonyms":["SPG36"],"definition":"一种复杂形式的遗传性痉挛性截瘫，其特征是在儿童期或成年期出现进行性痉挛性截瘫(伴有痉挛性步态、痉挛、下肢无力、高弓足和尿急)，并伴有周围感觉运动神经病。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 36","synonyms":["SPG36"]}},"xrefs":[{"source":"OMIM","code":"613096","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":"attributed","validated":true},{"source":"MONDO","code":"0013132","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567930","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG36","name":"spastic paraplegia 36 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19357379[PMID]","hgnc":"33240","ensembl":null,"omim":null,"loci":["12q23-q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"19357379[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19357379[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-18","source":"19357379[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:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007220","label":"Demyelinating motor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011402","label":"Demyelinating sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006937","label":"Impaired distal tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Excluded (0%)","criteria":null}]}}