{"orpha":397735,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2U","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation","CMT2U"],"definition":"A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397735/","orphanet_url":"https://www.orpha.net/en/disease/detail/397735","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2U","synonyms":["CMT2U","Maladie de Charcot-Marie-Tooth autosomique dominante type 2 par mutation de MARS"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2U est un sous-type de la maladie de Charcot-Marie-Tooth autosomique dominante type 2. Elle se caractérise par l'apparition tardive à l'âge adulte (50-60 ans) d'une neuropathie sensorimotrice périphérique axonale, lentement progressive, conduisant à une faiblesse et une atrophie des membres supérieurs (muscles distaux) et inférieurs (muscles distaux et proximaux), associées à une atteinte sensitive pan-modale et distale des membres supérieurs et inférieurs. Les réflexes tendineux sont réduits et les vitesses de conduction nerveuse sont réduites ou absentes. Une douleur neuropathique a aussi été associée."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2U","synonyms":["CMT2U","Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MARS-Genmutation"],"definition":"Ein Subtyp der autosomal-dominanten Charcot-Marie-Tooth-Krankheit Typ 2, die im späten Erwachsenenalter (50-60 Jahre) auftritt und sich durch langsam fortschreitende, axonale, periphere sensomotorische Neuropathie auszeichnet. Sie manifestiert sich als distale Muskelschwäche und -atrophie der oberen Gliedmaßen sowie der proximalen und distalen unteren Gliedmaßen, in Verbindung mit distalen, panmodalen sensorischen Beeinträchtigungen der oberen und unteren Gliedmaßen. Die Sehnenreflexe sind reduziert und die Nervenleitgeschwindigkeiten sind reduziert bis fehlend. Neuropathische Schmerzen können ebenfalls assoziiert sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2U","synonyms":["CMT2U","Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen MARS"],"definition":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 2 autosómica dominante caracterizada por el inicio en la edad adulta tardía (50-60 años de edad) de neuropatía sensitivo-motora periférica axonal, lentamente progresiva, que resulta en debilidad y atrofia muscular de los miembros superiores distales y de los miembros inferiores distales y proximales, en conjunción con deterioro sensorial panmodal de las extremidades superiores e inferiores distales. Los reflejos tendinosos están reducidos y las velocidades de conducción nerviosa varían de reducidas a ausentes. También se asocia dolor neuropático."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2U","synonyms":["CMT2U","Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di MARS"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2U è un sottotipo della malattia di Charcot-Marie-Tooth autosomica dominante tipo 2. È caratterizzata da neuropatia sensitivo-motoria periferica assonale a progressione lenta che esita nella debolezza e atrofia dei muscoli distali degli arti superiori e dei muscoli prossimali e distali degli arti inferiori, associate a deficit sensoriali generalizzati distali agli arti superiori e inferiori. L'esordio si colloca nella tarda età adulta (attorno ai 50-60 anni). Sono ridotti i riflessi tendinei e la velocità di conduzione è rallentata/assente. Sono stati descritti pazienti con dolore neuropatico."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2U","synonyms":["Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door MARS-mutatie","CMT2U"],"definition":"Een subtype van autosomaal dominante ziekte van Charcot-Marie-Tooth type 2, gekarakteriseerd door aanvang in de late volwassenheid (leeftijd van 50-60 jaar) van traag progressieve, axonale, perifere sensomotorische neuropathie die leidt tot spierzwakte en -atrofie in distale bovenste ledematen en proximale en distale onderste ledematen, in combinatie met distale, pan-modale sensorische stoornissen in bovenste en onderste ledematen. Peesreflexen zijn verminderd en zenuwgeleidingssnelheden gaan van verminderd tot afwezig. Neuropathische pijn werd ook reeds geassocieerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2U","synonyms":["Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação MARS"]},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2U","synonyms":["Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji MARS","CMT2U"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2U","synonyms":["CMT2U","Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi v genu MARS","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2U","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi v genu MARS"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2U","synonyms":["Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією MARS","CMT2U"],"definition":"A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated."},"zh":{"name":"常染色体显性遗传性夏科-马里-图斯病2U型","synonyms":["MARS突变所致常染色体显性遗传性夏科-马里-图斯病2型"],"definition":"本病是常染色体显性遗传性夏科-玛丽-图斯病2型的一种亚型，以晚发成人起病(50-60岁)为特征，表现为缓慢进行性轴突周围感觉运动性神经病，可导致上肢远端、下肢近端和远端肌无力和萎缩，并伴有上下肢远端的精细感觉障碍。腱反射减弱，且神经传导速度减慢或消失。神经性疼痛也与此有关。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2U","synonyms":["CMT2U","MARS mutasyonuna bağlı otozomal baskın Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"616280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4084821","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":"MARS1","name":"methionyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23729695[PMID]","hgnc":"6898","ensembl":"ENSG00000166986","omim":"156560","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23729695[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23729695[PMID]"}],"phenotypes":null}