{"orpha":447760,"name":"Autosomal recessive spastic paraplegia type 9B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-SPG9B"],"definition":"A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447760/","orphanet_url":"https://www.orpha.net/en/disease/detail/447760","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 9B","synonyms":["AR-SPG9B"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition précoce d'une paraparésie ou tétraparésie spastique lentement progressive, l'augmentation des réflexes tendineux, le signe de Babinski positif, le retard de développement global, des troubles cognitifs et une paralysie pseudo-bulbaire. Les autres signes cliniques incluent une dysmorphie faciale, des tremblements, une petite taille et l'incontinence urinaire."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 9B","synonyms":["AR-SPG9B"],"definition":"Eine seltene komplexe hereditäre spastische Paraplegie, die durch ein frühes Auftreten einer langsam fortschreitenden spastischen Para- oder Tetraparese, erhöhte Sehnenreflexe, ein positives Babinski-Zeichen, eine globale Entwicklungsverzögerung, kognitive Beeinträchtigungen und eine Pseudobulbärparese gekennzeichnet ist. Weitere Erscheinungsformen sind Gesichtsdysmorphien, Tremor, Kleinwuchs und Harninkontinenz."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 9B","synonyms":["AR-SPG9B"],"definition":"Es una paraplejía espástica hereditaria compleja y poco frecuente caracterizada por un inicio temprano de para- o tetraparesia espástica lentamente progresiva, aumento de los reflejos tendinosos, signo de Babinski, retraso global del desarrollo, deterioro cognitivo y parálisis pseudobulbar. Otras manifestaciones adicionales incluyen rasgos faciales dismórficos, temblor, talla baja e incontinencia urinaria."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 9B","synonyms":["AR-SPG9B"],"definition":"Si tratta di una paraplegia spastica complessa ereditaria rara, caratterizzata da paraparesi o tetraparesi spastica ad esordio precoce e progressione lenta, aumento dei riflessi tendinei, segno di Babinski positivo, ritardo dello sviluppo globale, deficit cognitivo e paralisi pseudobulbare. I pazienti possono presentare anche dismorfismi facciali, tremore, bassa statura e incontinenza urinaria."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 9B","synonyms":["AR-SPG9B"],"definition":"Een zeldzame complexe hereditaire spastische paraplegie, gekarakteriseerd door vroege aanvang van traag progressieve spastische para- of tetraparese, verhoogde peesreflexen, positief teken van Babinski, algehele ontwikkelingsachterstand, cognitieve functiestoornis, en pseudobulbaire paralyse. Bijkomende manifestaties zijn onder meer dysmorfe gelaatskenmerken, tremor, kleine gestalte, en urinaire incontinentie."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 9B","synonyms":["AR-SPG9B"]},"pl":{"name":"Autosomalna recesywna złożona paraplegia spastyczna typu 9B","synonyms":["AR-SPG9B"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 9B","synonyms":["AR-SPG9B"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 9B","synonyms":["AR-SPG9B"],"definition":"A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence."},"zh":{"name":"常染色体显性痉挛性截瘫9B型","synonyms":["AR-SPG9B"],"definition":"罕见的复杂性遗传性痉挛性截瘫，其特征在于缓慢进行性痉挛性截瘫或四肢瘫痪的早期发作，腱反射增加，Babinski征阳性，整体发育延迟，认知障碍和假性球麻痹。其他表现包括面部畸形，震颤，身材矮小和尿失禁。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 9B","synonyms":["AR-SPG9B"]}},"xrefs":[{"source":"OMIM","code":"616586","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":"0014702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","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 recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"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":"2018-05-24","source":"26026163[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031064","label":"Impaired continence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002476","label":"Primitive reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null}]}}