{"orpha":99936,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2B"],"definition":"A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99936/","orphanet_url":"https://www.orpha.net/en/disease/detail/99936","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2B","synonyms":["CMT2B"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2B (CMT2B) est une forme sévère de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. La CMT2B apparaît au cours de la deuxième ou de la troisième décennie et est caractérisée par des ulcérations et des infections du pied. Une faiblesse musculaire distale et symétrique se développe principalement au niveau de jambes, associée à une perte sévère de la sensibilité distale symétrique. Les réflexes tendineux achilléens sont diminués et des déformations du pied apparaissent pendant l'enfance, incluant des pieds creux ou plats, et des orteils en marteau."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B","synonyms":["CMT2B"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2B (CMT2B) ist eine schwere Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Der Beginn der CMT2B im 2. oder 3. Lebensjahrzehnt ist gekennzeichnet durch Ulzerationen und Infektionen der Füße. Hauptsächlich in den Beinen entwickelt sich eine symmetrische distale Muskelschwäche zusammen mit schwerem symmetrischem distalem Verlust der Sensorik. Die Sehnenreflexe sind nur im Fußgelenk abgeschwächt. Im Kindesalter entstehen Fußdeformitäten (Pes cavus oder planus und Hammerzehen)."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2B","definition":"Es una forma grave de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora que debuta en la 2ª o 3ª década de vida, caracterizada por ulceraciones e infecciones en los pies. La debilidad simétrica y distal se desarrolla mayoritariamente en las piernas junto con una pérdida sensorial distal simétrica grave, los reflejos tendinosos tan solo se reducen en los tobillos y las deformidades de los pies, incluyendo pie cavo o plano y dedos de los pies en martillo, aparecen en la infancia."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2B","synonyms":["CMT2B"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2B (CMT2B) è una forma grave della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. L'esordio della CMT2B, nella seconda e terza decade, è caratterizzato dalle ulcerazioni e dalle infezioni ai piedi. La debolezza distale e simmetrica riguarda di solito le gambe e si associa a grave perdita sensoriale distale simmetrica. I riflessi tendinei sono solo ridotti a livello delle caviglie e, durante l'infanzia, si manifestano deformità dei piedi, compresi i piedi cavi o piatti e le dita a martello."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2B","synonyms":["CMT2B"],"definition":"Een ernstige vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, met aanvang in het tweede of derde levensdecennium en gekarakteriseerd door ulceraties en infecties van de voeten. Symmetrische en distale zwakte ontwikkelt vooral in de benen, samen met een ernstig, symmetrisch, distaal zintuiglijk verlies; peesreflexen zijn enkel verminderd in de enkels; en voetmisvormingen, waaronder pes cavus of planus en hamertenen, verschijnen in de kindertijd."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2B"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2B","synonyms":["CMT2B"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2B","synonyms":["CMT2B","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2B"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2B","synonyms":["CMT2B"],"definition":"A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2B型","synonyms":["CMT2B"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2B型是一种严重的轴索性Charcot-Marie-Tooth病，是一种外周感觉运动性神经病，二三十岁发病，以足部溃疡和感染为特征。对称性和远端肌无力主要发生在腿部并伴有严重的对称性远端感觉丧失，肌腱反射仅在踝部减少，还有包括凹陷或扁平和槌状脚趾的足部畸形，症状主要出现在儿童时期。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2B","synonyms":["CMT2B"]}},"xrefs":[{"source":"OMIM","code":"600882","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":"1425224652"},{"source":"MONDO","code":"0010949","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833219","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9192","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":"RAB7A","name":"RAB7A, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"9788","ensembl":"ENSG00000075785","omim":"602298","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15455439[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"15455439[PMID]_ORPHANET"}],"phenotypes":null}