{"orpha":487814,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2 due to DGAT2 mutation"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-487814/","orphanet_url":"https://www.orpha.net/en/disease/detail/487814","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de DGAT2","synonyms":["CMT2 due à une mutation du DGAT2"],"definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique dominante rare, caractérisée par l'apparition infantile d'une faiblesse et d'une atrophie musculaires distales lentement progressives affectant principalement les membres inférieurs, associée à une atteinte sensorielle et à une ataxie se manifestant par une démarche instable avec les jambes très écartées, et des chutes fréquentes. Les autres signes sont une diminution des réflexes tendineux profonds et des tremblements affectant les mains."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch DGAT2-Genmutation","synonyms":["CMT2 durch DGAT2-Genmutation"],"definition":"Eine seltene autosomal-dominant vererbte axonale motorische und sensorische Neuropathie, die durch eine im Kindesalter beginnende, langsam fortschreitende distale Muskelschwäche und -atrophie gekennzeichnet ist, die vor allem die unteren Gliedmaßen betrifft und mit sensorischen Beeinträchtigungen und Ataxie einhergeht, die sich in einem unsicheren, breitbeinigen Gang und häufigen Stürzen äußert. Weitere Anzeichen sind verminderte tiefe Sehnenreflexe und Handtremor."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen DGAT2","synonyms":["CMT2 por una mutación en el gen DGAT2"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica dominante poco frecuente caracterizada por la aparición en la infancia de debilidad y atrofia muscular distal lentamente progresiva que afecta principalmente a las extremidades inferiores, asociada con alteraciones sensitivas y ataxia que se manifiesta con marcha inestable de base ancha y caídas frecuentes. Otros signos adicionales incluyen disminución de los reflejos osteotendinosos y temblor en las manos."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2 da mutazione di DGAT2","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica dominante, che esordisce nell'infanzia con debolezza e atrofia dei muscoli distali a progressione lenta, che interessano gli arti inferiori, associate a deficit sensoriale e atassia, che si manifestano con un'andatura instabile a base allargata e con cadute frequenti. Altri segni clinici sono la riduzione dei riflessi tendinei profondi e il tremore delle mani."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van een DGAT2-mutatie","synonyms":["CMT2 als gevolg van een DGAT2-mutatie"],"definition":"Een zeldzame autosomaal dominante hereditaire axonale motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de kindertijd van traag progressieve distale spierzwakte en -atrofie die voornamelijk onderste ledematen treffen, geassocieerd met sensorische stoornis en ataxie die zich manifesteren met onstabiele gang met brede basis en frequent vallen. Bijkomende tekenen zijn onder meer verminderde diepe peesreflexen en handtremor."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação DGAT2"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją DGAT2","synonyms":["CMT2 z powodu mutacji w DGAT2"]},"cs":{"name":"Autozomálně dominantní Charcot-Marie-Toothova nemoc typ 2 podmíněná mutací v genu DGAT2","synonyms":["CMT2 způsobená mutací DGAT2"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією DGAT2","synonyms":["CMT2 внаслідок мутації DGAT2"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor."},"zh":{"name":"常染色体显性Charcot-Marie-Tooth病2型DGAT2突变相关","synonyms":["夏洛特-玛丽齿病2型DGAT2突变相关"],"definition":"一种罕见的常染色体显性遗传性轴索运动和感觉神经病，其特点是儿童期开始出现缓慢进行性远端肌肉无力和萎缩，主要影响下肢，与感觉障碍和共济失调有关，表现为步态不稳、宽基步态和频繁跌倒。其他症状包括深部腱反射减弱和手震颤。"},"tr":{"name":"DGAT2 mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2","synonyms":["DGAT2 mutasyonu bağlı CMT2"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DGAT2","name":"diacylglycerol O-acyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26786738[PMID]","hgnc":"16940","ensembl":"ENSG00000062282","omim":"606983","loci":["11q13.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"26786738[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26786738[PMID]"}],"phenotypes":null}