{"orpha":447757,"name":"Autosomal dominant spastic paraplegia type 9B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD-SPG9B"],"definition":"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447757/","orphanet_url":"https://www.orpha.net/en/disease/detail/447757","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 9B","synonyms":["AD-SPG9B"],"definition":"Paraplégie spastique héréditaire rare, essentiellement de forme pure, caractérisée par une apparition à l'âge juvénile ou adulte d'une paraparésie spastique lentement progressive, des troubles de la marche et d'une augmentation des réflexes tendineux. Les autres signes cliniques variables incluent le pes cavus, la dysarthrie, les troubles sensoriels et les troubles urinaires. La cognition est normale."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 9B","synonyms":["AD-SPG9B"],"definition":"Eine seltene, überwiegend rein hereditäre spastische Paraplegie, die sich durch eine im Jugend- oder Erwachsenenalter einsetzende, langsam fortschreitende spastische Paraparese, Gangstörungen und erhöhte Sehnenreflexe auszeichnet. Zu den weiteren variablen Manifestationen gehören Pes cavus, Dysarthrie, Sensibilitätsstörungen und Harnsymptome. Die Kognition ist normal."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 9B","synonyms":["AD-SPG9B"],"definition":"Es una paraplejía espástica hereditaria predominantemente pura poco frecuente caracterizada por el inicio juvenil o en la edad adulta de paraplejía espástica lentamente progresiva, trastornos de la marcha y aumento de los reflejos tendinosos. Otras manifestaciones variables adicionales incluyen pies cavos, disartria, deterioro sensitivo y síntomas urinarios. La cognición es normal."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 9B","synonyms":["AD-SPG9B"],"definition":"Si tratta di una paraplegia spastica ereditaria rara, prevalentemente isolata, che esordisce nell'età giovanile o in quella adulta con paraparesi spastica a progressione lenta, anomalie dell'andatura e aumento dei riflessi tendinei. Altri segni clinici sono il piede cavo, la disartria, i deficit sensoriali e i sintomi urinari. L'intelligenza è normale."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 9B","synonyms":["AD-SPG9B"],"definition":"Een zeldzame, overwegend zuivere hereditaire spastische paraplegie, gekarakteriseerd door juveniele of volwassen aanvang van traag progressieve spastische paraparese, gangstoornissen, en verhoogde peesreflexen. Bijkomende variabele manifestaties zijn onder meer pes cavus, dysartrie, sensorische stoornis, en symptomen van urinewegstelsel. Cognitie is normaal."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 9B","synonyms":["AD-SPG9B"]},"pl":{"name":"Autosomalna dominująca złożona paraplegia spastyczna typu 9B","synonyms":["AD-SPG9B"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 9B","synonyms":["AD-SPG9B"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 9B","synonyms":["AD-SPG9B"],"definition":"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal."},"zh":{"name":"常染色体显性痉挛性截瘫9B型","synonyms":["AD-SPG9B"],"definition":"罕见的单纯的遗传性痉挛性截瘫，其特征是少年或成人期发作的缓慢进行性痉挛性截瘫，步态障碍和腱反射增加。其他可变的表现包括高足弓，构音障碍，感觉障碍和泌尿系统症状。认知是正常的"},"tr":{"name":"Otozomal dominant spastik parapleji tip 9B","synonyms":["AD-SPG9B"]}},"xrefs":[{"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":"0018644","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568979","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":"ALDH18A1","name":"aldehyde dehydrogenase 18 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26026163[PMID]","hgnc":"9722","ensembl":"ENSG00000059573","omim":"138250","loci":["10q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26026163[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26026163[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-01","source":"26026163[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}