{"orpha":221074,"name":"Marchiafava-Bignami disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MBD"],"definition":"A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221074/","orphanet_url":"https://www.orpha.net/en/disease/detail/221074","names":{"fr":{"name":"Maladie de Marchiafava-Bignami","synonyms":["MBD"],"definition":"Maladie neurologique rare caractérisée principalement par une démyélinisation progressive et une nécrose du corps calleux. Elle est dans la plupart des cas associée à l'alcoolisme chronique et à la malnutrition. La vitesse d'apparition et la présentation clinique sont très variables, avec un large spectre de symptomatologie, notamment la démence, les crises convulsives, les troubles de la marche, la dysarthrie, l'aphasie, l'athétose, ainsi que la stupeur et le coma."},"de":{"name":"Marchiafava-Bignami-Krankheit","synonyms":["MBD"],"definition":"Eine seltene neurologische Erkrankung, die vor allem durch fortschreitende Demyelinisierung und Nekrose des Corpus callosum gekennzeichnet ist. In den meisten Fällen ist sie mit chronischem Alkoholismus und Unterernährung verbunden. Die Geschwindigkeit des Auftretens und die klinische Präsentation sind sehr variabel, mit einer Reihe möglicher Symptome, einschließlich Demenz, Krampfanfällen, Gangstörungen, Dysarthrie, Aphasie, Athetose sowie Stupor und Koma."},"es":{"name":"Enfermedad de Marchiafava-Bignami","definition":"Es una enfermedad neurológica poco frecuente caracterizada principalmente por desmielinización progresiva y necrosis del cuerpo calloso. En la mayoría de los casos se asocia a alcoholismo crónico y malnutrición. La velocidad de aparición y la presentación clínica son muy variables, con un rango amplio de posibles síntomas que incluyen demencia, crisis, anomalías de la marcha, disartria, afasia y atetosis, así como estupor y coma."},"it":{"name":"Malattia di Marchiafava-Bignami","definition":"Si tratta di una malattia neurologica rara, caratterizzata per lo più da demielinizzazione progressiva e necrosi del corpo calloso. Si associa prevalentemente all'alcolismo cronico e alla malnutrizione. La rapidità dell'esordio e il quadro clinico sono molto variabili; i sintomi comprendono la demenza, le crisi epilettiche, le anomalie dell'andatura, la disartria, l'afasia, l'atetosi, lo stupor e il coma."},"nl":{"name":"Ziekte van Marchiafava-Bignami","synonyms":["MBD"],"definition":"Een zeldzame neurologische aandoening, vooral gekarakteriseerd door progressieve demyelinisatie en necrose van corpus callosum. In de meeste gevallen is het geassocieerd met chronisch alcoholisme en malnutritie. Aanvang en klinische presentatie van de ziekte zijn zeer variabel, met een waaier aan mogelijke symptomen, waaronder dementie, insulten, ganganomalieën, dysartrie, afasie, athetose, alsook stupor en coma."},"pt":{"name":"Doença de Marchiafava-Bignami"},"pl":{"name":"Choroba Marchiafava i Bignami'ego","synonyms":["MBD"]},"cs":{"name":"Marchiafavův-Bignamiho syndrom","synonyms":["Marchiafava-Bignamiho syndrom"]},"uk":{"name":"Хвороба Маркіяфава-Біньямі","synonyms":["MBD"],"definition":"A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma."},"zh":{"name":"Marchiafava-Bignami病","synonyms":["MBD"],"definition":"一种罕见的神经系统疾病，最显著的特点是胼胝体进行性脱髓鞘和坏死。在大多数情况下，它与慢性酒精中毒和营养不良有关。起病速度和临床表现多变，可能出现的一系列症状包括痴呆，癫痫，步态异常，构音障碍，失语症，手足徐动症，以及木僵和昏迷。"},"tr":{"name":"Marchiafava-Bignami hastalığı","synonyms":["MBD"]}},"xrefs":[{"source":"ICD-10","code":"G37.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A46","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1694687314"},{"source":"MONDO","code":"0016370","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238265","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10026828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"11328337[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":"2021-03-23","source":"30252263[PMID]_23978380[PMID]_29384842[PMID]","terms":[{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100503","label":"Low levels of vitamin B1","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","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:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030784","label":"Anomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","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:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002476","label":"Primitive reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null}]}}