{"orpha":506353,"name":"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive complex SPG due to Kennedy pathway dysfunction","Autosomal recessive spastic paraplegia type 81"],"definition":"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-506353/","orphanet_url":"https://www.orpha.net/en/disease/detail/506353","names":{"fr":{"name":"Paraplégie spastique complexe autosomique récessive par dysfonctionnement de la voie de Kennedy","synonyms":["HSP complexe autosomique récessive par dysfonctionnement de la voie de Kennedy","Paraplégie spastique autosomique récessive type 81"],"definition":"Maladie neurologique génétique rare caractérisée par une paraparésie spastique progressive et un retard de développement de la motricité globale, survenant au cours de l'enfance ou de la petite enfance. Les patients manifestent également une déficience intellectuelle de degré variable, ainsi qu'un retard de langage et une dysarthrie. Les autres signes cliniques rapportées incluent la microcéphalie, les crises convulsives, la luette bifide avec ou sans fente palatine et des anomalies oculaires. L'IRM révèle des anomalies de la substance blanche dans les régions périventriculaires et dans d'autres régions."},"de":{"name":"Autosomal-rezessive komplexe spastische Paraplegie durch Störung im Kennedy-Stoffwechselweg","synonyms":["Autosomal-rezessive komplizierte SPG durch Störung des Kennedy-Stoffwechselweges","Spastische Paraplegie, autosomal-rezessive, Typ 81"],"definition":"Eine genetisch bedingte seltene neurologische Störung, die durch fortschreitende spastische Paraparese und verzögerte grobmotorische Entwicklung gekennzeichnet ist und im Säuglings- oder frühen Kindesalter beginnt. Die Patienten weisen außerdem einen unterschiedlichen Grad an Intelligenzminderung, Sprachverzögerung und Dysarthrie auf. Zu den weiteren berichteten Merkmalen gehören Mikrozephalie, Krampfanfälle, bifide Uvula mit oder ohne Gaumenspalte und Augenanomalien. Die Bildgebung des Gehirns zeigt Anomalien der weißen Substanz in den periventrikulären und anderen Regionen."},"es":{"name":"Paraplejía espástica compleja autosómica recesiva por disfunción de la vía de Kennedy","synonyms":["Paraplejía espástica autosómica recesiva tipo 81","SPG compleja autosómica recesiva por disfunción de la vía de Kennedy"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por paraplejía espástica progresiva y retraso del desarrollo motor grueso de inicio en la lactancia o en la infancia temprana. Los pacientes también muestran un grado variable de discapacidad intelectual, retraso del habla y disartria. Otros hallazgos adicionales descritos incluyen microcefalia, crisis epilépticas, úvula bífida con o sin paladar hendido y anomalías oculares. La neuroimagen muestra anomalías de la sustancia blanca en la región periventricular, entre otras regiones."},"it":{"name":"Paraplegia spastica complessa autosomica recessiva da disfunzione della via di Kennedy","synonyms":["Paraplegia spastica autosomica recessiva tipo 81","SPG complessa autosomica recessiva da disfunzione della via di Kennedy"],"definition":"Si tratta di una malattia neurologica rara, di origine genetica, che esordisce in epoca neonatale o nella prima infanzia con paraparesi spastica progressiva e ritardo dello sviluppo della motricità grossolana. I pazienti presentano anche disabilità intellettiva di gravità variabile, ritardo del linguaggio e disartria. Altri segni clinici sono la microcefalia, le crisi epilettiche, l'ugola bifida con o senza palatoschisi e le anomalie oculari. Le neuroimmagini mostrano anomalie della sostanza bianca nella regione periventricolare e in altre aree."},"nl":{"name":"Autosomaal recessieve complexe spastische paraplegie door disfunctie van Kennedy-reactiepad","synonyms":["Autosomaal recessieve complexe SPG door disfunctie van Kennedy-reactiepad","Autosomaal recessieve spastische paraplegie type 81"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door progressieve spastische paraparese en vertraagde ontwikkeling van grove motoriek met aanvang in de zuigelingentijd of vroege kindertijd. Patiënten vertonen ook variabele gradaties van intellectuele achterstand, spraakachterstand, en dysartrie. Overige gerapporteerde kenmerken zijn onder meer microcefalie, insulten, gespleten uvula met of zonder gespleten verhemelte, en ooganomalieën. Beeldvorming van hersenen toont afwijkingen van witte stof in periventriculaire en andere gebieden."},"pt":{"name":"Paraplegia espástica complexa autossómica recessiva por disfunção da via Kennedy","synonyms":["Paraparesia espástica autossómica recessiva tipo 81","Paraparesia espástica complexa autossómica recessiva por disfunção da via Kennedy","Paraplegia espástica autossómica recessiva tipo 81","SPG complexa autossómica recessiva por disfunção da via Kennedy"]},"pl":{"name":"Autosomalna recesywna złożona spastyczna paraplegia spowodowana dysfunkcją szlaku Kennedy’ego","synonyms":["Autosomal recessive complex SPG due to Kennedy pathway dysfunction","Autosomal recessive spastic paraplegia type 81"]},"cs":{"name":"Autozomálně recesivní komplexní spastická paraplegie způsobená dysfunkcí Kennedyho dráhy","synonyms":["Autozomálně recesivní komplexní SPG způsobená dysfunkcí Kennedyho dráhy"]},"uk":{"name":"Аутосомно-рецесивна складна спастична параплегія, зумовлена дисфункцієюї шляху Кеннеді","synonyms":["Аутосомно-рецесивний складний SPG внаслідок дисфункції шляху Кеннеді","Аутосомно-рецесивна спастична параплегія, тип 81"],"definition":"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions."},"zh":{"name":"Kennedy通路功能障碍所致常染色体隐性复合型痉挛性偏瘫","synonyms":["Autosomal recessive complex SPG due to Kennedy pathway dysfunction"],"definition":"一种罕见的遗传性神经系统疾病，以进行性痉挛性截瘫和粗大运动发育迟缓为特征，在婴儿期或儿童早期发病。患者还表现出不同程度的智力障碍、语言发育迟缓和构音障碍。其他特征包括小头畸形、癫痫发作、悬雍垂裂伴或不伴有腭裂，以及眼球异常。脑成像显示脑室周围和其他区域的白质异常。"},"tr":{"name":"Kennedy yolu disfonksiyonuna bağlı otozomal resesif kompleks spastik parapleji","synonyms":["Kennedy yolu disfonksiyonuna bağlı otozomal çekinik kompleks SPG"]}},"xrefs":[{"source":"OMIM","code":"618768","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568576","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":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SELENOI","name":"selenoprotein I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28052917[PMID]","hgnc":"29361","ensembl":"ENSG00000138018","omim":"607915","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"28052917[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28052917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-21","source":"28052917[PMID]","terms":[{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008848","label":"Moderately short stature","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008376","label":"Nasal, dysarthic speech","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007768","label":"Central retinal vessel vascular tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007220","label":"Demyelinating motor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030625","label":"Hyporeflective spaces on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030182","label":"Tetraplegia/tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}