{"orpha":100999,"name":"Autosomal dominant spastic paraplegia type 19","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG19"],"definition":"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100999/","orphanet_url":"https://www.orpha.net/en/disease/detail/100999","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 19","synonyms":["SPG19"],"definition":"La paraplégie spastique autosomique dominante type 19 est une forme pure de paraplégie spastique héréditaire caractérisée par une paraplégie spastique relativement bénigne, lentement progressive se manifestant à l'âge adulte, associée à une démarche spastique, une hyperréflexie des membres inférieurs, des réponses d'extension plantaire, une dysfonction rénale (impériosité et/ou incontinence urinaires), et une légère neuropathie périphérique sensorielle et motrice."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 19","synonyms":["SPG19"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 19 ist eine reine Form der hereditären spastischen Paraplegie, die durch eine langsam fortschreitende und relativ gutartige spastische Paraplegie gekennzeichnet ist, die sich im Erwachsenenalter mit spastischem Gang, Hyperreflexie der unteren Gliedmaßen, extensorischen Plantarreflex, Blasenfunktionsstörungen (Harndrang und/oder Inkontinenz) und leichter sensorischer und motorischer peripherer Neuropathie zeigt."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 19","synonyms":["SPG19"],"definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por una paraplejía espástica lentamente progresiva y relativamente benigna que se presenta en la edad adulta con marcha espástica, hiperreflexia de miembros inferiores, respuestas plantares extensoras, disfunción vesical (urgencia urinaria y/o incontinencia) y neuropatía periférica sensitivomotora leve."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 19","synonyms":["SPG19"],"definition":"La paraplegia spastica autosomica dominante tipo 19 è una forma pura di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta e relativamente benigna, che esordisce nell'età adulta con andatura spastica, iperreflessia degli arti inferiori, risposte plantari in estensione, disfunzioni della vescica (urgenza minzionale e/o incontinenza) e neuropatia periferica sensitivo-motoria lieve."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 19","synonyms":["SPG19"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door een traag progressieve en relatief goedaardige spastische paraplegie die zich presenteert in de volwassenheid met spastische gang, hyperreflexie van onderste ledematen, afwijkende voetzoolreflexen, blaasdisfunctie (urinaire urgentie en/of incontinentie), en milde sensorische en motorische perifere neuropathie."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 19","synonyms":["SPG19"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 19","synonyms":["SPG19"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 19","synonyms":["SPG19"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 19","synonyms":["SPG19"],"definition":"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy."},"zh":{"name":"常染色体显性遗传痉挛性截瘫19型","synonyms":["SPG19"],"definition":"常染色体显性遗传性痉挛性截瘫19型是一种遗传性痉挛性截瘫的单纯形式，在成年后出现缓慢进展且相对良性，伴有痉挛性步态、下肢反射亢进、足底伸肌反应、膀胱功能障碍(尿急和/或大小便失禁)，以及轻度感觉和运动周围神经病变。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 19","synonyms":["SPG19"]}},"xrefs":[{"source":"OMIM","code":"607152","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":"1020508875"},{"source":"MONDO","code":"0011785","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846685","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG19","name":"spastic paraplegia 19 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16706","ensembl":null,"omim":null,"loci":["9q33-q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12112072[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12112072[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"12112072[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","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:0000012","label":"Urinary urgency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","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:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}