{"orpha":300605,"name":"Juvenile amyotrophic lateral sclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JALS","Juvenile Charcot disease","Juvenile Lou Gehrig disease"],"definition":"A rare motor neuron disease characterized by onset before 25 years of age of progressive upper and/or lower motor neuron degeneration, leading to bulbar and limb motor impairment, with marked clinical and genetic heterogeneity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300605/","orphanet_url":"https://www.orpha.net/en/disease/detail/300605","names":{"fr":{"name":"Sclérose latérale amyotrophique juvénile","synonyms":["JALS","Maladie de Charcot juvénile","Maladie de Lou Gehrig juvénile","SLAJ"],"definition":"Maladie rare du motoneurone se caractérisant par l'apparition, avant l'âge de 25&nbsp;ans, d'une dégénérescence progressive des motoneurones supérieurs et/ou inférieurs, entraînant une atteinte motrice bulbaire et des membres, et présentant une hétérogénéité clinique et génétique marquée."},"de":{"name":"Amyotrophe Lateralsklerose, juvenile","synonyms":["Charcot-Krankheit, juvenile","JALS","Lou-Gehrig-Krankheit, juvenile"],"definition":"Die Juvenile amyotrophe Lateralsklerose (JALS), eine sehr seltene schwere Motoneuronkrankheit, ist gekennzeichnet durch fortschreitende Degeneration der oberen und unteren Motoneurone. Daraus folgen faziale Spastizität, Dysarthrie und Gangstörungen. Die Symptome beginnen vor dem 25. Lebensjahr."},"es":{"name":"Esclerosis lateral amiotrófica juvenil","synonyms":["Enfermedad de Charcot juvenil","Enfermedad de Lou-Gehrig juvenil","JALS"],"definition":"La esclerosis lateral amiotrófica juvenil (JALS) es una enfermedad grave y muy rara de las neuronas motoras. Se caracteriza por la degeneración progresiva de las neuronas motoras superiores e inferiores, lo que provoca espasticidad facial, disartria y trastornos en la deambulación; la aparición de la enfermedad se suele producir antes de los 25 años de edad."},"it":{"name":"Sclerosi laterale amiotrofica giovanile","synonyms":["JALS","Malattia di Charcot giovanile","Malattia di Lou-Gehrig giovanile"],"definition":"La sclerosi laterale amiotrofica giovanile (JALS) è una malattia rara dei motoneuroni caratterizzata da degenerazione progressiva dei motoneuroni inferiori e superiori, che provoca spasticità facciale, disartria e disturbi della deambulazione ad esordio prima dei 25 anni."},"nl":{"name":"Juveniele amyotrofische laterale sclerose","synonyms":["Juveniele amyotrofe laterale sclerose","Juveniele ziekte van Charcot","Juveniele ziekte van Lou Gehrig","JALS"],"definition":"Een zeldzame motorneuronziekte, gekenmerkt door optreden voor de leeftijd van 25 jaar van progressieve degeneratie van hogere en/of lagere motorneuronen, wat leidt tot bulbaire functiestoornis en motorische functiestoornis in ledematen, met opmerkelijke klinische en genetische heterogeniteit."},"pt":{"name":"Esclerose lateral amiotrófica juvenil"},"pl":{"name":"Młodzieńcze stwardnienie zanikowe boczne","synonyms":["JALS","Młodzieńcza choroba Charcota","Młodzieńcza choroba Lou Gehriga"]},"cs":{"name":"Juvenilní amyotrofická laterální skleróza","synonyms":["JALS","Juvenilní Charcotova nemoc","Juvenilní Lou Gehrigova nemoc"]},"uk":{"name":"Ювенільний бічний аміотрофічний склероз","synonyms":["JALS","Ювенільна хвороба Шарко","Ювенільна хвороба Лу Геріга"],"definition":"Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age."},"zh":{"name":"青少年肌萎缩侧索硬化症","synonyms":["青少年Lou Gehrig病"],"definition":"青少年肌萎缩侧索硬化症（JALS）是一种非常罕见的重度运动神经元病变，其特征是进行性上下运动神经元变性，导致面部痉挛、构音障碍和步态障碍，在25岁前发病。"},"tr":{"name":"Jüvenil amyotrofik lateral skleroz","synonyms":["JALS","Jüvenil Charcot hastalığı","Jüvenil Lou Gehrig hastalığı"]}},"xrefs":[{"source":"OMIM","code":"205100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300857","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614373","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017593","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3468114","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11901","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":"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":"23282280[PMID]","hgnc":"443","ensembl":"ENSG00000003393","omim":"606352","loci":["2q33.1"]},{"symbol":"ATP13A2","name":"ATPase cation transporting 13A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30992063[PMID]","hgnc":"30213","ensembl":"ENSG00000159363","omim":"610513","loci":["1p36.13"]},{"symbol":"ERLIN1","name":"ER lipid raft associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29453415[PMID]","hgnc":"16947","ensembl":"ENSG00000107566","omim":"611604","loci":["10q24.31"]},{"symbol":"FUS","name":"FUS RNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20579074[PMID]_23046859[PMID]_22248478[PMID]","hgnc":"4010","ensembl":"ENSG00000089280","omim":"137070","loci":["16p11.2"]},{"symbol":"GNE","name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29086072[PMID]","hgnc":"23657","ensembl":"ENSG00000159921","omim":"603824","loci":["9p13.3"]},{"symbol":"SIGMAR1","name":"sigma non-opioid intracellular receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21842496[PMID]_24085347[PMID]","hgnc":"8157","ensembl":"ENSG00000147955","omim":"601978","loci":["9p13.3"]},{"symbol":"SORD","name":"sorbitol dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34751056[PMID]","hgnc":"11184","ensembl":"ENSG00000140263","omim":"182500","loci":["15q21.1"]},{"symbol":"SPG11","name":"SPG11 vesicle trafficking associated, spatacsin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24085347[PMID]_22154821[PMID]_20110243[PMID]","hgnc":"11226","ensembl":"ENSG00000104133","omim":"610844","loci":["15q21.1"]},{"symbol":"SPTLC1","name":"serine palmitoyltransferase long chain base subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34459874[PMID]","hgnc":"11277","ensembl":"ENSG00000090054","omim":"605712","loci":["9q22.31"]},{"symbol":"SPTLC2","name":"serine palmitoyltransferase long chain base subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38041679[PMID]_38041684[PMID]","hgnc":"11278","ensembl":"ENSG00000100596","omim":"605713","loci":["14q24.3"]},{"symbol":"SYNE1","name":"spectrin repeat containing nuclear envelope protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32870032[PMID]_15106121[PMID]_31957062[PMID]","hgnc":"17089","ensembl":"ENSG00000131018","omim":"608441","loci":["6q25.2"]},{"symbol":"TARDBP","name":"TAR DNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33159016[PMID]_36011394[PMID]","hgnc":"11571","ensembl":"ENSG00000120948","omim":"605078","loci":["1p36.22"]},{"symbol":"TRMT2B","name":"tRNA methyltransferase 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37874476[PMID]","hgnc":"25748","ensembl":"ENSG00000188917","omim":"301128","loci":["Xq22.1"]},{"symbol":"UBQLN2","name":"ubiquilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21857683[PMID]","hgnc":"12509","ensembl":"ENSG00000188021","omim":"300264","loci":["Xp11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial","X-linked dominant","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-16","source":"24562058[PMID]_20301623[PMID]_31682085[PMID]","terms":[{"hpo":"HP:0007354","label":"Amyotrophic lateral sclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031960","label":"Arm dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100360","label":"Contractures of the joints of the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005750","label":"Lower-limb joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002544","label":"Retrocollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}