{"orpha":137898,"name":"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LBSL","Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome"],"definition":"This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137898/","orphanet_url":"https://www.orpha.net/en/disease/detail/137898","names":{"fr":{"name":"Syndrome de leucoencéphalopathie avec atteinte du tronc cérébral et de la moelle épinière-élévation des lactates","definition":"Cette maladie est caractérisée par une ataxie cérébelleuse progressive avec une atteinte pyramidale et spinale associée à des anomalies caractéristiques visibles à l'IRM et à une concentration en lactate anormalement élevée dans la matière blanche."},"de":{"name":"Syndrom der Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung und Laktaterhöhung","synonyms":["LBSL"],"definition":"Diese Krankheit ist charakterisiert durch progrediente zerebelläre Ataxie, pyramidale und spinale Dysfunktion, distinkte Anomalien in der zerebralen Magnetresonanz-Bildgebung (MRI) und Laktaterhöhung in der abnormen weißen Substanz."},"es":{"name":"Síndrome de leucoencefalopatía con afectación del tronco del encéfalo y a la médula espinal-lactato elevado","synonyms":["LBSL","Síndrome de leucoencefalopatía con afectación del tronco del encéfalo y a la médula espinal-elevación del lactato"],"definition":"Esta enfermedad se caracteriza por ataxia cerebelosa progresiva con disfunción piramidal y de la médula espinal, asociada con anomalías características visibles por IRM y una concentración de lactato anormalmente elevada en la materia blanca."},"it":{"name":"Leucoencefalopatia con coinvolgimento del tronco cerebrale e del midollo spinale - livelli elevati di lattato","synonyms":["LBSL"]},"nl":{"name":"Leuko-encefalopathie met betrokkenheid van hersenstam en ruggenmerg - hoog lactaatgehalte-syndroom","synonyms":["LBSL"],"definition":"Een aandoening, gekenmerkt door progressieve cerebellaire ataxie met disfunctie van piramidebaan en ruggenmerg, geassocieerd met typische MRI-anomalieën en verhoogd lactaatgehalte in abnormale witte stof."},"pt":{"name":"Síndrome de leucoencefalopatia com envolvimento do tronco cerebral e medula-lactato aumentado","definition":"Esta doença é caracterizada por ataxia cerebelar progressiva com disfunção piramidal e da medula espinal, associada a anomalias na MRI e concentração de lactato aumentada na substância branca."},"pl":{"name":"Leukoencefalopatia z zaangażowaniem pnia mózgu i rdzenia kręgowego - podwyższony poziom mleczanu","synonyms":["LBSL"]},"cs":{"name":"Syndrom zahrnující leukoencefalopatii s involucí mozkového kmene a míchy a vysokou hladinu laktátu","synonyms":["LBSL","Syndrom zahrnující leukoencefalopatii s involucí mozkového kmene a míchy a elevaci laktátu"]},"uk":{"name":"Синдром лейкоенцефалопатії з ураженням стовбура та спинного мозку-підвищеного лактату","synonyms":["LBSL","Лейкоенцефалопатія з ураженням стовбура та спинного мозку - синдром підвищення рівня лактату"],"definition":"This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter."},"zh":{"name":"脑干脊髓受累脑白质病-高乳酸综合征","synonyms":["LBSL"],"definition":"该疾病的特征是进行性小脑共济失调伴锥体和脊髓功能障碍，伴独特的MRI异常和异常白质中乳酸增加。"},"tr":{"name":"Beyin sapı ve omurilik tutulumu olan lökoensefalopati - yüksek laktat sendromu","synonyms":["Beyin sapı ve omurilik tutulumu-laktat yükselmesi sendromu ile seyreden lökoensefalopati","LBSL"]}},"xrefs":[{"source":"OMIM","code":"611105","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1901486941"},{"source":"MONDO","code":"0012622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12652","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","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":"DARS2","name":"aspartyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17384640[PMID]","hgnc":"25538","ensembl":"ENSG00000117593","omim":"610956","loci":["1q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":127.0,"area":"Worldwide","status":"Validated","source":"24566671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-16","source":"20506600[PMID]_24566671[PMID]_28431594[PMID]_30352563[PMID]_30635318[PMID]_21815884[PMID]_19592391[PMID]_16788019[PMID]_15002045[PMID]_15326244[PMID]","terms":[{"hpo":"HP:0011397","label":"Abnormality of the dorsal column of the spinal cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006978","label":"Dysmyelinating leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007668","label":"Impaired pursuit initiation and maintenance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005340","label":"Spastic/hyperactive bladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very rare (<4-1%)","criteria":null}]}}