{"orpha":139480,"name":"Autosomal recessive spastic paraplegia type 39","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG39","Spastic paraplegia due to NTE mutation","Spastic paraplegia due to neuropathy target esterase mutation"],"definition":"A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139480/","orphanet_url":"https://www.orpha.net/en/disease/detail/139480","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 39","synonyms":["Paraplégie spastique due à une mutation de l'estérase neurotoxique","Paraplégie spastique due à une mutation de la NTE","SPG39"],"definition":"Paraplégie spastique complexe autosomique récessive rare, caractérisée par une atteinte du motoneurone supérieur et une neuropathie périphérique, apparaissant entre l'enfance et le début de l'âge adulte. Les patients présentent une spasticité progressive, une hyperréflexie et une atrophie des muscles distaux supérieurs et inférieurs. Une altération des fonctions cognitives et une ataxie cérébelleuse ont également été décrites. L'imagerie par résonance magnétique peut révéler une atrophie du cervelet et/ou de la moelle épinière."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 39","synonyms":["SPG39","Spastische Paraplegie durch NTE (neuropathy target esterase)-Genmutation"],"definition":"Eine seltene autosomal-rezessive komplexe spastische Paraplegie, die durch eine Beteiligung der oberen Motoneuronen und eine periphere Neuropathie gekennzeichnet ist und zwischen der Kindheit und dem frühen Erwachsenenalter einsetzt. Die Patienten leiden an fortschreitender Spastik, Hyperreflexie und distalem Muskelschwund der oberen und unteren Extremitäten. Auch über eine verminderte kognitive Leistungsfähigkeit und zerebelläre Ataxie wurde berichtet. Die MRT-Bildgebung kann eine Atrophie des Kleinhirns und/oder des Rückenmarks aufzeigen."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 39","definition":"Es una paraplejía espástica compleja autosómica recesiva poco frecuente caracterizada por afectación de la motoneurona superior y neuropatía periférica de inicio entre la infancia y la edad adulta temprana. Los pacientes presentan espasticidad progresiva, hiperreflexia y atrofia muscular distal superior e inferior. También se ha descrito afectación del funcionamiento cognitivo y ataxia cerebelosa. Las neuroimágenes pueden revelar atrofia cerebelosa y/o de la médula espinal."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 39","synonyms":["Paraplegia spastica da mutazione dell'esterasi bersaglio della neuropatia","Paraplegia spastica da mutazione di NTE","SPG39"]},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 39","synonyms":["SPG39","Spastische paraplegie door NTE-mutatie","Spastische paraplegie door neuropathisch target esterase-mutatie"],"definition":"Een zeldzame autosomaal recessieve complexe spastische paraplegie, gekenmerkt door betrokkenheid van bovenste motorische neuronen en perifere neuropathie met aanvang tussen de kindertijd en vroege volwassenheid. Patiënten vertonen progressieve spasticiteit, hyperreflexie, en spieratrofie van distale bovenste en onderste ledematen. Verminderde cognitieve functie en cerebellaire ataxie werden ook reeds gerapporteerd. Beeldvorming met magnetische resonantie toont mogelijk atrofie van cerebellum en/of ruggenmerg."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 39","synonyms":["Paraplegia espástica por mutação NTE","SPG39"],"definition":"Paraplegia espástica complexa, autossómica recessiva e rara, caracterizada por envolvimento do neurónio motor superior e neuropatia periférica, com início entre a infância e o início da idade adulta. Os doentes apresentam espasticidade progressiva, hiperreflexia e atrofia muscular distal superior e inferior. Foram reportadas diminuição da função cognitiva e ataxia cerebelosa. A ressonância magnética pode revelar atrofia cerebelosa e/ou da medula espinhal."},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 39","synonyms":["Paraplegia spastyczna z powodu mutacji NTE","Spastyczna paraplegia z powodu mutacji neuropatycznej esterazy","SPG39"],"definition":"Rzadka złożona paraplegia spastyczna, dziedziczona autosomalnie recesywnie, charakteryzująca się zajęciem górnych neuronów ruchowych i neuropatią obwodową o początku w wieku dziecięcym lub u młodych dorosłych. W obrazie klinicznym obserwuje się postępującą spastyczność, wygórowanie odruchów oraz zanik dystalnych mięśni kończyn górnych i dolnych. Zgłaszano także zaburzenia funkcji poznawczych i ataksję móżdżkową. Obrazowanie rezonansem magnetycznych może pokazać zanik móżdżku i/lub rdzenia kręgowego."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 39","synonyms":["SPG39","Spastická paraplegie způsobená mutacemi NTE genu","Spastická paraplegie způsobená mutací neuropatii cílené esterázou"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 39","synonyms":["Спастична параплегія внаслідок мутації мішені естерази нейропатії","Спастична параплегія внаслідок мутації NTE","SPG39"],"definition":"A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫39型","synonyms":["神经病靶标酯酶所致痉挛性截瘫"],"definition":"该综合征的特征是进行性痉挛性截瘫和远端肌萎缩。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 39","synonyms":["SPG39","NTE mutasyonuna bağlı spastik parapleji","Nöropati hedef esteraz mutasyonuna bağlı spastik parapleji"]}},"xrefs":[{"source":"OMIM","code":"612020","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":"index","validated":true,"icd11_uri":"1290660931"},{"source":"MONDO","code":"0012787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4924","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]}],"children":[],"genes":[{"symbol":"PNPLA6","name":"patatin like domain 6, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18313024[PMID]","hgnc":"16268","ensembl":"ENSG00000032444","omim":"603197","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24355708[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24355708[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-04","source":"18313024[PMID]_24355708[PMID]","terms":[{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null}]}}