{"orpha":309271,"name":"Metachromatic leukodystrophy, adult form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arylsulfatase A deficiency, adult form","MLD, adult form"],"definition":"A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309271/","orphanet_url":"https://www.orpha.net/en/disease/detail/309271","names":{"fr":{"name":"Leucodystrophie métachromatique de l'adulte","synonyms":["Déficit en arylsulfatase A, forme adulte","MLD, forme adulte"],"definition":"Sous-type de leucodystrophie métachromatique, caractérisé par une régression psychomotrice progressive avec un début insidieux après l'âge de 16 ans, commençant le plus souvent par des changements intellectuels et comportementaux, tels que des déficits cognitifs ou une instabilité émotionnelle. Le tableau clinique est dominé par un déclin cognitif progressif qui s'accompagne plus tard d'un déclin moteur, qui s'installe dans le temps avec des périodes de régression et de progression. Un état de décérébration et le décès surviennent dans les décennies qui suivent le début de la maladie."},"de":{"name":"Leukodystrophie, metachromatische, adulte Form","synonyms":["Arylsulfatase A-Mangel, adulte Form","MLD, adulte Form"],"definition":"Eine Subtyp der metachromatischen Leukodystrophie, die durch eine fortschreitende psychomotorische Regression gekennzeichnet ist, die schleichend nach dem 16. Lebensjahr einsetzt und meist mit intellektuellen und verhaltensbezogenen Veränderungen wie Gedächtnisstörungen oder emotionaler Instabilität beginnt. Das klinische Bild wird von einem allmählichen kognitiven, später auch motorischen Verfall beherrscht, der einen langwierigen Verlauf mit Perioden des Zunehmens und Abnehmens nimmt. Dezerebration und Tod treten innerhalb von Jahrzehnten nach Krankheitsbeginn auf."},"es":{"name":"Leucodistrofia metacromática, forma adulta","synonyms":["Deficiencia de arilsulfatasa A, forma adulta","MLD, forma adulta"],"definition":"Es un subtipo de leucodistrofia metacromática caracterizado por una regresión psicomotora progresiva de inicio insidioso después de los 16 años, que comienza en la mayoría de los casos con trastornos intelectuales y de conducta, tales como déficit de memoria o labilidad emocional. El cuadro clínico está dominado por un deterioro cognitivo gradual y, posteriormente, también motor, que sigue un curso prolongado con períodos de altibajos. La descerebración y el fallecimiento se producen décadas después del inicio de la enfermedad."},"it":{"name":"Leucodistrofia metacromatica, forma dell'adulto","synonyms":["Deficit di arilsulfatasi A, forma dell'adulto","MLD, forma dell'adulto"],"definition":"Si tratta di un sottotipo di leucodistrofia metacromatica caratterizzato dalla regressione psicomotoria progressiva ad esordio insidioso dopo i 16 anni, che spesso si manifesta inizialmente con alterazioni dell'intelletto e del comportamento, come i deficit mnemonici e l'instabilità emotiva. Il quadro clinico comprende il graduale declino cognitivo e, successivamente, quello motorio, con un decorso protratto in cui si alternano periodi di aggravamento e di regressione della malattia. La decerebrazione e la morte di verificano nell'arco di alcuni decenni dall'esordio della malattia."},"nl":{"name":"Metachromatische leukodystrofie, volwassen vorm","synonyms":["Arylsulfatase A-deficiëntie, volwassen vorm","MLD, volwassen vorm"],"definition":"Een subtype van metachromatische leukodystrofie, gekarakteriseerd door progressieve psychomotorische regressie met een sluipende aanvang na de leeftijd van 16 jaar, meestal met intellectuele veranderingen en gedragsveranderingen, zoals geheugenproblemen of emotionele instabiliteit. Het klinische beeld wordt overheerst door graduele cognitieve, en later ook motorische, aftakeling, met een langdurig verloop en periodes van toenemen en afnemen. Decerebratie en dood treden op binnen enkele decennia na aanvang van de ziekte."},"pt":{"name":"Leucodistrofia metacromática, forma adulta"},"pl":{"name":"Leukodystrofia metachromatyczna, postać dorosła","synonyms":["MLD, postać dorosła","Niedobór arylsulfatazy A, postać dorosła"]},"cs":{"name":"Metachromatická leukodystrofie, adultní forma","synonyms":["Deficit arylsulfatázy A, adultní forma","MLD, adultní forma"]},"uk":{"name":"Метахроматична лейкодистрофія, доросла форма","synonyms":["Дефіцит арилсульфатази А, доросла форма","МЛД, доросла форма"],"definition":"A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset."},"zh":{"name":"成人型异染性脑白质营养不良","synonyms":["成人型芳香硫酸酯酶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，16岁后隐匿地发病，起始症状通常为智力和行为的改变，如记忆缺陷或情绪不稳定。临床表现先以渐进性认知下降为主，再表现为运动性衰退，并有一个长期的发展和衰退过程。发病后几十年内会出现去脑和死亡。"},"tr":{"name":"Metakromatik lökodistrofi, yetişkin formu","synonyms":["MLD, erişkin formu","Arilsülfataz A eksikliği, erişkin 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":"1302835544"},{"source":"MONDO","code":"0017730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751279","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":["Adult"],"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":"15710861[PMID]_2905384[PMID]_5963214[PMID]_2876627[PMID]_20038527[PMID]_21707604[PMID]_14206875[PMID]_10682309[PMID]_21502868[PMID]_21955203[PMID]_27261095[PMID]_1674357[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:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","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:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","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:0002354","label":"Memory impairment","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: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:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","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:0002478","label":"Progressive spastic quadriplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100575","label":"Neoplasm of the gallbladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Very rare (<4-1%)","criteria":null}]}}