{"orpha":275872,"name":"Frontotemporal dementia with motor neuron disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FTD-ALS","FTD-MND","Frontotemporal dementia with amyotrophic lateral sclerosis"],"definition":"Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275872/","orphanet_url":"https://www.orpha.net/en/disease/detail/275872","names":{"fr":{"name":"Démence fronto-temporale avec maladie du motoneurone","synonyms":["DFT-SLA","Démence fronto-temporale avec sclérose latérale amyotrophique"],"definition":"Type de dégénérescence lobaire fronto-temporale caractérisée par l'apparition insidieuse (entre 38 et 78&nbsp;ans) de symptômes psychiatriques associés à la démence (par exemple, changements de personnalité, comportement désinhibé, irritabilité, agressivité), des troubles de la mémoire, d'une déficience intellectuelle, des troubles émotionnels et une aphasie motrice transcorticale conduisant in fine au mutisme, accompagnés des manifestations de la maladie du motoneurone telle que l'atrophie musculaire neurogène (similaire à celle observée dans la sclérose latérale amyotrophique). La maladie est progressive et entraîne le décès entre 2 à 5&nbsp;ans après son apparition."},"de":{"name":"Frontotemporale Demenz mit Motoneuron-Krankheit","synonyms":["FTD-ALS","FTD-MND","Frontotemporale Demenz mit ALS"]},"es":{"name":"Demencia frontotemporal con enfermedad de la motoneurona","synonyms":["Demencia frontotemporal con esclerosis lateral amiotrófica","FTD-ALS","FTD-MND"],"definition":"Es un tipo de degeneración del lóbulo frontotemporal caracterizada por el inicio insidioso (entre los 38-78 años de edad) de síntomas psiquiátricos asociados a demencia (p. ej., cambios de personalidad, comportamiento desinhibido, irritabilidad, agresividad), problemas de memoria, discapacidad intelectual global, trastornos emocionales y afasia motora transcortical que eventualmente conduce a mutismo, además de manifestaciones de la enfermedad de la motoneurona, tales como atrofia muscular neurogénica (similar a la observada en la esclerosis lateral amiotrófica). La enfermedad es progresiva y el fallecimiento suele ocurrir a los 2 a 5 años de que debute la enfermedad."},"it":{"name":"Demenza frontotemporale con malattia dei motoneuroni","synonyms":["Demenza frontotemporale con sclerosi laterale amiotrofica","FTD-ALS","FTD-MND"],"definition":"La demenza frontotemporale con malattia dei motoneuroni (FTD-MND) è una degenerazione lobare frontotemporale che esordisce tra i 38 e i 78 anni con sintomi psichiatrici associati alla demenza (cambiamenti di personalità, comportamento disinibito, irritabilità, aggressività), difficoltà mnemoniche, deterioramento intellettivo generalizzato, disturbi emotivi, afasia transcorticale motoria, che esita nel mutismo, associati ai segni della malattia dei motoneuroni, come la debolezza muscolare neurogena (che ricorda quella osservata nella sclerosi laterale amiotrofica). La malattia è progressiva e il decesso avviene entro 2-5 anni dall'esordio."},"nl":{"name":"Frontotemporale dementie met motorneuronziekte","synonyms":["FTD-ALS","FTD-MND","Frontotemporale dementie met amyotrofe laterale sclerose","Frontotemporale dementie met amyotrofische laterale sclerose"],"definition":"Frontotemporale dementie met motorische neuronziekte (FTD-MND) is een type frontotemporale lobaire degeneratie dat gekarakteriseerd wordt door sluipende aanvang (tussen de leeftijd van 38-78 jaar) van dementiegeassocieerde psychiatrische symptomen (e.g. persoonlijkheidsveranderingen, ongeremd gedrag, prikkelbaarheid, agressiviteit), problemen met het geheugen, algemene intellectuele beperking, emotionele stoornissen en transcorticale motorische afasie die uiteindelijk leidt tot mutisme, met bijkomend de manifestaties van motorische neuronziekte zoals neurogene spieratrofie (gelijkaardig aan wat wordt waargenomen bij amyotrofe laterale sclerose; zie deze term). De ziekte is progressief en patiënten overlijden 2-5 jaar na aanvang."},"pt":{"name":"Demência frontotemporal com doença do neurónio motor"},"pl":{"name":"Otępienie czołowo-skroniowe z chorobą neuronu ruchowego","synonyms":["FTD-ALS","FTD-MND","Otępienie czołowo-skroniowe ze stwardnieniem zanikowym bocznym"]},"cs":{"name":"Frontotemporální demence s onemocněním motorických neuronů","synonyms":["FTD-ALS","FTD-MND","Frontotemporální demence s amyotrofickou laterální sklerózou"]},"uk":{"name":"Лобно-скронева деменція з ураженням рухових нейронів","synonyms":["Лобно-скронева деменція при бічному аміотрофічному склерозі","FTD-ALS","FTD-MND"],"definition":"Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset."},"zh":{"name":"额颞叶痴呆伴运动神经元病","synonyms":["额颞叶痴呆伴肌萎缩侧索硬化症"],"definition":"额颞叶痴呆伴运动神经元病(FTD-MND)是一种额颞叶变性病，其特征是除神经源性肌肉萎缩(类似于肌萎缩侧索硬化症；见该词条)等运动神经元疾病的表现外，在38岁至78岁之间显现出与痴呆相关的精神症状(如人格改变、无节制行为、易怒、攻击性)、记忆障碍、全身性智能障碍、情绪障碍和跨皮质运动性失语，最终导致缄默症。这种疾病是进行性的，发病后2-5年内死亡。"},"tr":{"name":"Motor nöron hastalığı ile seyreden frontotemporal demans","synonyms":["FTD-ALS","FTD-MND","Amiyotrofik lateral skleroz ile seyreden frontotemporal demans"]}},"xrefs":[{"source":"OMIM","code":"105550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612069","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613954","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615911","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616439","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619133","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"OMIM","code":"619141","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"G31.0","qualifier":"BTNT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"6D83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1171850356"},{"source":"MONDO","code":"0017161","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98535,"name":"Frontotemporal degeneration with dementia","classifications":[181]},{"orpha":306708,"name":"Frontotemporal neurodegeneration with movement disorder","classifications":[156,181]},{"orpha":276061,"name":"Genetic frontotemporal degeneration with dementia","classifications":[156]}],"children":[],"genes":[{"symbol":"TBK1","name":"TANK binding kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25803835[PMID]","hgnc":"11584","ensembl":"ENSG00000183735","omim":"604834","loci":["12q14.2"]},{"symbol":"C9ORF72","name":"C9orf72-SMCR8 complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23597030[PMID]","hgnc":"28337","ensembl":"ENSG00000147894","omim":"614260","loci":["9p21.2"]},{"symbol":"CHCHD10","name":"coiled-coil-helix-coiled-coil-helix domain containing 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24934289[PMID]","hgnc":"15559","ensembl":"ENSG00000250479","omim":"615903","loci":["22q11.23"]},{"symbol":"SQSTM1","name":"sequestosome 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24042580[PMID]","hgnc":"11280","ensembl":"ENSG00000161011","omim":"601530","loci":["5q35.3"]},{"symbol":"TARDBP","name":"TAR DNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11571","ensembl":"ENSG00000120948","omim":"605078","loci":["1p36.22"]},{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21145000[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]},{"symbol":"FUS","name":"FUS RNA binding protein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23597030[PMID]","hgnc":"4010","ensembl":"ENSG00000089280","omim":"137070","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"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":"2018-10-17","source":"17036243[PMID]_25803835[PMID]_23303844[PMID]_24934289[PMID]_16495328[PMID]_19251628[PMID]_21145000[PMID]","terms":[{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002127","label":"Abnormal upper motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","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:0002442","label":"Dyscalculia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007190","label":"Neuronal loss in the cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010549","label":"Weakness due to upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008322","label":"Abnormal mitochondrial morphology","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:0001283","label":"Bulbar palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030223","label":"Perseveration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null}]}}