{"orpha":99027,"name":"Adult-onset autosomal dominant leukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADLD","Adult-onset autosomal dominant demyelinating leukodystrophy"],"definition":"A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99027/","orphanet_url":"https://www.orpha.net/en/disease/detail/99027","names":{"fr":{"name":"Leucodystrophie autosomique dominante de l'adulte","synonyms":["ADLD","Leucodystrophie démyélinisante autosomique dominante de l'adulte"],"definition":"Maladie neurologique rare, lentement progressive, impliquant une démyélinisation du système nerveux central, entraînant des manifestations dysautonomiques, une ataxie et des troubles cognitifs légers."},"de":{"name":"Leukodystrophie, autosomal-dominante, im Erwachsenenalter beginnend","synonyms":["ADLD","Adulte autosomal-dominante demyelinisierende Leukodystrophie"]},"es":{"name":"Leucodistrofia autosómica dominante de inicio en el adulto","synonyms":["ADLD","Leucodistrofia desmielinizante autosómica dominante de inicio en el adulto"],"definition":"Es un trastorno neurológico poco frecuente de lenta progresión de desmielinización del sistema nervioso central, conduciendo a disfunción autonómica, ataxia y deterioro cognitivo leve."},"it":{"name":"Leucodistrofia autosomica dominante a esordio nell'età adulta","synonyms":["ADLD","Leucodistrofia demielinizzante autosomica dominante a esordio nell'età adulta"],"definition":"La leucodistrofia autosomica dominante ad esordio nell'età adulta (ADLD) è una malattia neurologica rara a progressione lenta, caratterizzata dalla demielinizzazione del sistema nervoso centrale, che esita nella disfunzione del sistema autonomo, nell'atassia e nel deficit cognitivo lieve."},"nl":{"name":"Autosomaal dominante leukodystrofie met aanvang in de volwassenheid","synonyms":["ADLD","Autosomaal dominante demyeliniserende leukodystrofie met aanvang in de volwassenheid"],"definition":"Een zeldzame, traag progressieve neurologische aandoening waarbij demyelinisatie van centraal zenuwstelsel optreedt, wat leidt tot autonome disfunctie, ataxie en milde cognitieve beperking."},"pt":{"name":"Leucodistrofia autossómica dominante de início no adulto","synonyms":["Doença de Pelizaeus-Merzbacher autossómica dominante de início tardio"]},"pl":{"name":"Autosomalna dominująca leukodystrofia dorosłych","synonyms":["ADLD","Autosomalna dominująca leukodystrofia demielinizująca dorosłych"]},"cs":{"name":"Autozomálně dominantní leukodystrofie s manifestací v dospělosti","synonyms":["ADLD","Autozomálně dominantní demyelinizační leukodystrofie s manifestací v dospělosti"]},"uk":{"name":"Аутосомно-домінантна лейкодистрофія, що починається в дорослому віці","synonyms":["ADLD","Аутосомно-домінантна демієлінізуюча лейкодистрофія, що починається в дорослому віці"],"definition":"A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment."},"zh":{"name":"成人起病型常染色体显性遗传脑白质营养不良症","synonyms":["成人起病常染色体显性遗传脱髓鞘性白质营养不良"],"definition":"该病是一种罕见的、进展缓慢的神经疾病，涉及中枢神经系统脱髓鞘，导致自主神经功能障碍、共济失调和轻度认知障碍。"},"tr":{"name":"Yetişkin başlangıçlı otozomal dominant lökodistrofi","synonyms":["ADLD","Erişkin başlangıçlı otozomal dominant demiyelinizan lökodistrofi"]}},"xrefs":[{"source":"OMIM","code":"169500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"704130"},{"source":"MONDO","code":"0008215","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868512","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":262869,"name":"Partial duplication of the long arm of chromosome 5 syndrome","classifications":[147,156]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNB1","name":"lamin B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24501781[PMID]_23649844[PMID]","hgnc":"6637","ensembl":"ENSG00000113368","omim":"150340","loci":["5q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-08","source":"31695592[PMID]_29302065[PMID]_26749591[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011931","label":"Abnormality of the cerebellar peduncle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005341","label":"Autonomic bladder dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007369","label":"Atrophy/Degeneration affecting the cerebrum","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:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007480","label":"Decreased sweating due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}