{"orpha":329258,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2Q","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2Q"],"definition":"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329258/","orphanet_url":"https://www.orpha.net/en/disease/detail/329258","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2Q","synonyms":["CMT2Q"],"definition":"Sous-type rare de la maladie de Charcot-Marie-Tooth autosomique dominante type 2 caractérisé par l'apparition, chez l'adolescent ou l'adulte, d'une faiblesse et d'une atrophie musculaires distales symétriques et lentement progressives (avec une faiblesse prédominante du segment distal des membres inférieurs) associées à des réflexes tendineux profonds altérés ou absents, des pieds creux et des troubles sensoriels profonds, légers à modérés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Q","synonyms":["CMT2Q"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2Q","synonyms":["CMT2Q"],"definition":"Es un subtipo poco frecuente de la enfermedad de Charcot-Marie-Tooth autosómica dominante. Se caracteriza por el inicio en la adolescencia o en la edad adulta y por ser lentamente progresiva, con debilidad muscular y atrofia distal simétrica, afectando predominantemente las extremidades inferiores. Los reflejos tendinosos profundos se encuentran reducidos o ausentes. Se manifiesta también con pie cavo y alteraciones sensitivas profundas de leve a moderadas."},"it":{"name":"Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2Q","synonyms":["CMT2Q"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2Q è un sottotipo raro della malattia di Charcot-Marie-Tooth autosomica dominante tipo 2, che esordisce nell'adolescenza o nell'età adulta con debolezza ed atrofia dei muscoli distali a progressione lenta (la debolezza interessa prevalentemente la porzione distale degli arti inferiori), associata alla riduzione o all'assenza dei riflessi tendinei profondi, piede cavo e lieve deficit sensoriale profondo."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Q","synonyms":["CMT2Q"],"definition":"Een zeldzaam subtype van autosomaal dominante ziekte van Charcot-Marie-Tooth type 2, gekarakteriseerd door aanvang in de adolescentie tot de volwassenheid van symmetrische, traag progressieve zwakte en atrofie van distale spieren (met voornamelijk zwakte van distale onderste ledematen), geassocieerd met verminderde of afwezige diepe peesreflexen, pes cavus en milde tot matige stoornis van het diepe sensorische systeem."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2Q"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2Q","synonyms":["CMT2Q"],"definition":"*Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2Q jest rzadkim podtypem autosomalnej dominującej polineuropatii Charcota, Mariego i Tootha typu 2, która charakteryzuje się symetrycznym, wolno postępującym osłabieniem i zanikiem mięśni dystalnych (z dominującym osłabieniem kończyn dolnych) o początku w wieku młodzieńczym lub dorosłym, z towarzyszącym osłabieniem lub brakiem głębokich odruchów ścięgnistych, stopą wydrążoną oraz łagodnymi lub umiarkowanie nasilonymi zaburzeniami czucia głębokiego. inf brsup"},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2Q","synonyms":["CMT2Q","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Q"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Q","synonyms":["CMT2Q"],"definition":"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment."},"zh":{"name":"常染色体显性夏科-马里-图斯病2Q型","synonyms":["夏科-马里-图斯病2Q型"],"definition":"一种罕见的常染色体显性夏科-马里-图斯病2型亚型，其特征是青少年至成年期出现对称性缓慢进行性远端肌无力和萎缩（以下肢远端为主），伴有深部肌腱反射减少或缺失，腔静脉畸形和轻度至中度深感觉损害。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2Q","synonyms":["CMT2Q"]}},"xrefs":[{"source":"OMIM","code":"615025","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554366","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":"DHTKD1","name":"dehydrogenase E1 and transketolase domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23141294[PMID]","hgnc":"23537","ensembl":"ENSG00000181192","omim":"614984","loci":["10p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23141294[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}