{"orpha":99938,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2D"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99938/","orphanet_url":"https://www.orpha.net/en/disease/detail/99938","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2D","synonyms":["CMT2D"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2D (CMT2D) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. Elle est caractérisée par une faiblesse musculaire distale survenant essentiellement et de manière prédominante au niveau des membres supérieurs, des réflexes tendineux absents ou diminués au niveau des membres supérieurs et diminués au niveau des membres inférieurs. La progression de la maladie est lente."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D","synonyms":["CMT2D"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2D (CMT2D) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Sie ist gekennzeichnet durch distale Muskelschwäche, die zuerst und überwiegend in den oberen Gliedmassen auftritt. Die Sehnenreflexe sind in den Armen ausgelöscht oder abgeschwächt und in den Beinen abgeschwächt. Die Krankheit ist langsam progredient."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2D","synonyms":["CMT2D"],"definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada principalmente por debilidad distal, que afecta predominantemente a los miembros superiores, y reflejos tendinosos ausentes o reducidos en las extremidades superiores y disminuidos en las extremidades inferiores. Es de progresión lenta."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2D","synonyms":["CMT2D"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2D (CMT2D) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica, caratterizzata da debolezza distale che interessa primariamente e prevalentemente gli arti superiori, in assenza o in presenza di riflessi tendinei ridotti a livello delle braccia e di una diminuzione di quelli delle gambe. La progressione è lenta."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2D","synonyms":["CMT2D"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door distale zwakte die eerst en vooral voorkomt in de bovenste ledematen en afwezige of verminderde peesreflexen in de armen en verminderde peesreflexen in de benen. Progressie is traag."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2D","synonyms":["CMT2D"]},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2D","synonyms":["CMT2D"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2D","synonyms":["CMT2D","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2D"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2D","synonyms":["CMT2D"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2D型","synonyms":["CMT2D"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2D型是轴索性Charcot-Marie-Tooth病的一种形式，是一种外周感觉运动性神经病，其特征是主要发生在上肢的远端无力，手臂的肌腱反射缺失或减少，腿部的肌腱反射减弱。疾病进展缓慢。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2D","synonyms":["CMT2D"]}},"xrefs":[{"source":"OMIM","code":"601472","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":"1617529678"},{"source":"MONDO","code":"0011091","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832274","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":"GARS1","name":"glycyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"4162","ensembl":"ENSG00000106105","omim":"600287","loci":["7p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":44.0,"area":"Worldwide","status":"Validated","source":"8872480[PMID]_10732809[PMID]_9879677[PMID]_19329989[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8872480[PMID]_10732809[PMID]_9879677[PMID]_19329989[PMID]"}],"phenotypes":null}