{"orpha":247604,"name":"Juvenile primary lateral sclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JPLS","Juvenile PLS"],"definition":"A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247604/","orphanet_url":"https://www.orpha.net/en/disease/detail/247604","names":{"fr":{"name":"Sclérose latérale primitive juvénile","synonyms":["JPLS","PLS juvénile","SLP juvénile"],"definition":"La sclérose latérale primitive (SLP) juvénile est un trouble neuronal et moteur très rare, caractérisé par un dysfonctionnement progressif neuronal et moteur supérieur, conduisant à une perte de la capacité de la marche, à la dépendance d'un fauteuil roulant, et par la suite, à une perte de la production de la parole."},"de":{"name":"Lateralsklerose, juvenile primäre","synonyms":["JPLS","Juvenile PLS"],"definition":"Die Juvenile primäre Lateralsklerose (JPLS) ist eine sehr seltene Motoneuron-Krankheit und gekennzeichnet durch progrediente Funktionsstörung der oberen Motoneurone mit Verlust der Gehfähigkeit, Rollstuhlabhängigkeit und im weiteren Verlauf Verlust der motorischen Sprachproduktion."},"es":{"name":"Esclerosis lateral primaria juvenil","synonyms":["ELP juvenil","JPLS","PLS juvenil"],"definition":"Es una enfermedad muy rara de las neuronas motoras caracterizada por la disfunción progresiva de las neuronas motoras superiores que lleva a la pérdida de la capacidad de caminar, la consiguiente dependencia de una silla de ruedas y, posteriormente, se produce una pérdida del lenguaje oral."},"it":{"name":"Sclerosi laterale primitiva giovanile","synonyms":["JPLS","PLS giovanile"],"definition":"La sclerosi laterale primitiva giovanile (JPLS) è una malattia rara dei motoneuroni, caratterizzata da una disfunzione progressiva dei motoneuroni superiori, che porta alla perdita della capacità di camminare e alla conseguente dipendenza dalla sedia a rotelle e, successivamente, alla perdita del linguaggio."},"nl":{"name":"Juveniele primaire laterale sclerose","synonyms":["JPLS","Juveniele PLS"],"definition":"Een zeer zeldzame motorneuronziekte, gekarakteriseerd door progressieve disfunctie van bovenste motorische zenuwcellen, wat leidt tot verlies van loopvermogen en tot afhankelijkheid van een rolstoel, en vervolgens tot verlies van motorische spraakproductie."},"pt":{"name":"Esclero lateral primária juvenil"},"pl":{"name":"Młodzieńcze pierwotne stwardnienie boczne","synonyms":["JplS","Młodzieńcze plS"]},"cs":{"name":"Juvenilní primární laterální skleróza","synonyms":["JPLS","Juvenilní PLS"]},"uk":{"name":"Ювенільний первинний бічний склероз","synonyms":["JPLS","Ювенільна PLS"],"definition":"A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production."},"zh":{"name":"少年型原发性侧索硬化症","synonyms":["少年型PLS"],"definition":"一种非常罕见的运动神经元疾病，其特征是进行性上运动神经元功能障碍，导致行走能力丧失需要依赖轮椅，随后丧失运动言语能力。"},"tr":{"name":"Juvenil primer lateral skleroz","synonyms":["JPLS","jüvenil PLS"]}},"xrefs":[{"source":"OMIM","code":"606353","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011663","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853396","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4485","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ERLIN2","name":"ER lipid raft associated 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23109145[PMID]","hgnc":"1356","ensembl":"ENSG00000147475","omim":"611605","loci":["8p11.23"]},{"symbol":"ALS2","name":"alsin Rho guanine nucleotide exchange factor ALS2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19122027[PMID]","hgnc":"443","ensembl":"ENSG00000003393","omim":"606352","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002127","label":"Abnormal upper motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002193","label":"Pseudobulbar behavioral symptoms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}