{"orpha":284232,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2O","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2O"],"definition":"A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284232/","orphanet_url":"https://www.orpha.net/en/disease/detail/284232","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2O","synonyms":["CMT2O"],"definition":"Sous-type génétique rare de la maladie de Charcot-Marie-Tooth autosomique dominante type 2, caractérisé par l'apparition dans la petite enfance d'une faiblesse et d'une atrophie musculaires lentement progressives et principalement distales des membres inférieurs, d'un retard de développement moteur, d'une perte sensorielle de degré variable et des pieds creux, en présence de vitesses de conduction nerveuse normales ou proches de la normale. D'autres caractéristiques, inconstantes, peuvent inclure une faiblesse musculaire proximale, une démarche anormale, une arthrogrypose, une scoliose, des troubles cognitifs et une spasticité."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O","synonyms":["CMT2O"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2O","synonyms":["CMT2O"],"definition":"Es un subtipo de origen genético y poco frecuente de la enfermedad de Charcot-Marie-Tooth autosómica dominante caracterizado por el inicio en la infancia temprana de debilidad y atrofia muscular, lentamente progresiva, de las extremidades inferiores y predominantemente distales, así como por retraso del desarrollo motor, pérdida sensitiva variable y pie cavo en presencia de velocidades de conducción nerviosa normales o casi normales. Otras características adicionales variables pueden incluir debilidad muscular proximal, marcha anómala, artrogriposis, escoliosis, deterioro cognitivo y espasticidad."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2O","synonyms":["CMT2O"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2O è un sottotipo genetico raro della malattia di Charcot-Marie-Tooth autosomica dominante tipo 2, che esordisce nella prima infanzia con debolezza ed atrofia a progressione lenta dei muscoli degli arti inferiori, prevalentemente della porzione distale, ritardo dello sviluppo motorio, perdita sensoriale di grado variabile e piede cavo. Le velocità di conduzione dei nervi sono normali o quasi normali. Altri segni clinici variabili sono la debolezza dei muscoli prossimali, le anomalie dell'andatura, l'artrogriposi, la scoliosi, il deficit cognitivo e la spasticità."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2O","synonyms":["CMT2O"],"definition":"Een zeldzaam, genetisch subtype van autosomaal dominante ziekte van Charcot-Marie-Tooth type 2, gekarakteriseerd door aanvang in de vroege kindertijd van traag progressieve spierzwakte en -atrofie van voornamelijk distale onderste ledematen, vertraagde motorische ontwikkeling, variabel zintuiglijk verlies, en holvoet, in aanwezigheid van normale of bijna normale zenuwgeleidingssnelheden. Mogelijke bijkomende variabele kenmerken zijn onder meer zwakte van proximale spieren, abnormale gang, artrogrypose, scoliose, cognitieve beperking, en spasticiteit."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2O"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2O","synonyms":["CMT2O"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2O","synonyms":["CMT2O","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2O"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2O","synonyms":["CMT2O"],"definition":"A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity."},"zh":{"name":"常染色体显性遗传性Charcot-Marie-Tooth病2O型","synonyms":["CMT2O"],"definition":"常染色体显性遗传Charcot-Marie-Tooth病20型是罕见的遗传性常染色体显性遗传Charcot-Marie-Tooth病2型的一种亚型，其特征是儿童期起病的缓慢进行性下肢远端为主的肌无力和萎缩，运动发育迟缓，可变的感觉丧失，在神经传导速度正常或接近正常时出现高弓足。其他可变特征包括近端肌无力、步态异常、关节挛缩、脊柱侧弯、认知障碍和痉挛。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2O","synonyms":["CMT2O"]}},"xrefs":[{"source":"OMIM","code":"614228","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"402570689"},{"source":"MONDO","code":"0013644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280220","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":"DYNC1H1","name":"dynein cytoplasmic 1 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]_21820100[PMID]","hgnc":"2961","ensembl":"ENSG00000197102","omim":"600112","loci":["14q32.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}