{"orpha":309263,"name":"Metachromatic leukodystrophy, juvenile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arylsulfatase A deficiency, juvenile form","MLD, juvenile form"],"definition":"A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309263/","orphanet_url":"https://www.orpha.net/en/disease/detail/309263","names":{"fr":{"name":"Leucodystrophie métachromatique juvénile","synonyms":["Déficit en arylsulfatase A, forme juvénile","MLD, forme juvénile"],"definition":"Sous-type de leucodystrophie métachromatique, caractérisé par une régression psychomotrice progressive avec un début entre l'âge de 30 mois et 16 ans, commençant souvent par des troubles du comportement ou une détérioration des performances scolaires. Les autres manifestations sont l'ataxie, les troubles de la marche, la réduction des réflexes tendineux profonds, la spasticité, les crises d'épilepsie, la paralysie, la démence et la perte de la parole, de la vision et de l'audition, pour aboutir in fine à une perte totale des capacités motrices et cognitives et à la décérébration. La vitesse de détérioration est variable, avec une survie possible jusqu'à la troisième décennie de vie."},"de":{"name":"Leukodystrophie, metachromatische, juvenile Form","synonyms":["Arylsulfatase A-Mangel, juvenile Form","MLD, juvenile Form"],"definition":"Eine Subtyp der metachromatischen Leukodystrophie, die durch eine fortschreitende psychomotorische Regression gekennzeichnet ist, die im Alter zwischen 30 Monaten und 16 Jahren einsetzt und oft mit Verhaltensauffälligkeiten oder einer Verschlechterung der schulischen Leistungen beginnt. Weitere Erscheinungsformen sind Ataxie, Gangstörungen, verminderte tiefe Sehnenreflexe, Spastik, Krampfanfälle, Lähmungen, Demenz und der Verlust von Sprache, Seh- und Hörvermögen, der schließlich zum vollständigen Verlust der motorischen und kognitiven Fähigkeiten und zur Dezerebration führt. Die Geschwindigkeit der Verschlechterung ist unterschiedlich, wobei ein Überleben bis zum dritten Lebensjahrzehnt möglich ist."},"es":{"name":"Leucodistrofia metacromática, forma juvenil","synonyms":["Deficiencia de arilsulfatasa A, forma juvenil","MLD, forma juvenil"],"definition":"Es un subtipo de leucodistrofia metacromática caracterizado por una regresión psicomotora progresiva de inicio entre los 30 meses y los 16 años de edad, comenzando a menudo con alteraciones de la conducta o disminución del rendimiento escolar. Otras manifestaciones adicionales son ataxia, trastornos de la marcha, disminución de los reflejos osteotendinosos, espasticidad, crisis epilépticas, parálisis, demencia y pérdida auditiva, de la visión y del habla, que evolucionan finalmente a una pérdida completa de las habilidades motoras y cognitivas a descerebración. La tasa de afectación es variable, con posibilidad de sobrevivir hasta la tercera década de la vida."},"it":{"name":"Leucodistrofia metacromatica, forma giovanile","synonyms":["Deficit di arilsulfatasi A, forma giovanile","MLD, forma giovanile"],"definition":"Si tratta di un sottotipo della leucodistrofia metacromatica, che esordisce tra i 30 mesi e i 16 anni con regressione psicomotoria progressiva, che spesso si manifesta inizialmente con anomalie del comportamento o con il deterioramento del rendimento scolastico. Altri segni clinici comprendono l'atassia, le anomalie della deambulazione, la riduzione dei riflessi tendinei profondi, la spasticità, le crisi epilettiche, la paralisi, la demenza e la perdita del linguaggio, della vista e dell'udito. La malattia esita nella perdita completa delle competenze motorie e cognitive, e nella decerebrazione. Il deterioramento è variabile e i pazienti possono sopravvivere fino alla terza decade di vita."},"nl":{"name":"Metachromatische leukodystrofie, juveniele vorm","synonyms":["Arylsulfatase A-deficiëntie, juveniele vorm","MLD, juveniele vorm"],"definition":"Een subtype van metachromatische leukodystrofie, gekarakteriseerd door progressieve psychomotorische regressie met een aanvang tussen de leeftijd van 30 maanden en 16 jaar, vaak beginnend met gedragsafwijkingen of achteruitgang van schoolprestaties. Overige manifestaties zijn ataxie, gangstoornissen, verminderde diepe peesreflexen, spasticiteit, insulten, verlamming, dementie, en verlies van spraak, gezichtsvermogen en gehoor, wat uiteindelijk leidt tot volledig verlies van motorische en cognitieve vaardigheden, en decerebratie. De snelheid van achteruitgang is variabel en overleving tot het derde levensdecennium is mogelijk."},"pt":{"name":"Leucodistrofia metacromática, forma juvenil"},"pl":{"name":"Leukodystrofia metachromatyczna, postać młodzieńcza","synonyms":["MLD, postać młodzieńcza","Niedobór arylsulfatazy A, postać młodzieńcza"]},"cs":{"name":"Metachromatická leukodystrofie, forma juvenilní","synonyms":["Deficit arylsulfatázy A, forma juvenilní","MLD, forma juvenilní"]},"uk":{"name":"Метахроматична лейкодистрофія, ювенільна форма","synonyms":["Дефіцит арилсульфатази А, ювенільна форма","МЛД, ювенільна форма"],"definition":"A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life."},"zh":{"name":"青少年型异染性脑白质营养不良","synonyms":["青少年型芳香硫酸酯酶A缺乏"],"definition":"异染性脑白质营养不良的一种亚型，以进行性精神运动退化为特征，发病年龄在30个月至16岁之间，最初表现多为行为异常或学习成绩下降，进一步表现为共济失调、步态障碍、深部肌腱反射减弱、痉挛、癫痫发作、瘫痪、痴呆、语言、视力和听力丧失，最终导致运动和认知能力完全丧失，以及大脑功能减退。恶化速度可变，最高生存年龄三十岁。"},"tr":{"name":"Metakromatik lökodistrofi, juvenil formu","synonyms":["MLD, jüvenil formu","Arilsülfataz A eksikliği, genç formu"]}},"xrefs":[{"source":"OMIM","code":"250100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1142720083"},{"source":"MONDO","code":"0009591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":512,"name":"Metachromatic leukodystrophy","classifications":[150,156,181,189,233]}],"children":[],"genes":[{"symbol":"ARSA","name":"arylsulfatase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301309[PMID]","hgnc":"713","ensembl":"ENSG00000100299","omim":"607574","loci":["22q13.33"]},{"symbol":"PSAP","name":"prosaposin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24478108[PMID]","hgnc":"9498","ensembl":"ENSG00000197746","omim":"176801","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-19","source":"5963214[PMID]_2876627[PMID]_20038527[PMID]_21707604[PMID]_14206875[PMID]_10682309[PMID]_21502868[PMID]_21955203[PMID]","terms":[{"hpo":"HP:0004343","label":"Abnormal glycosphingolipid metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030081","label":"Punctate periventricular T2 hyperintense foci","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007133","label":"Progressive peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Very rare (<4-1%)","criteria":null}]}}