{"orpha":495274,"name":"Charcot-Marie-Tooth disease type 2T","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CMT2T","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T","CMT2T"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495274/","orphanet_url":"https://www.orpha.net/en/disease/detail/495274","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2T","synonyms":["AR-CMT2T","CMT2T","Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2T"],"definition":"Neuropathie sensitivo-motrice héréditaire axonale autosomique récessive rare caractérisée par l'apparition à l'âge adulte d'une faiblesse et d'une atrophie musculaires distales lentement progressives, d'une déficience sensorielle et d'une diminution, voire d'une absence des réflexes tendineux profonds, principalement dans les extrémités inférieures. Les patients présentent des troubles de la marche mais sont capables de déambuler. Une légère atteinte des membres supérieurs peut être observée."},"de":{"name":"Charcot-Marie-Tooth Krankheit Typ 2T","synonyms":["AR-CMT2T","CMT2T","Charcot-Marie-Tooth Krankheit, axonale, autosomal-rezessive, Typ 2T"],"definition":"Eine autosomal-rezessiv vererbte axonale motorische und sensorische Neuropathie, die im Erwachsenenalter mit langsam fortschreitender distaler Muskelschwäche und -atrophie, sensorischen Beeinträchtigungen und verminderten oder fehlenden tiefen Sehnenreflexen vorwiegend in den unteren Extremitäten auftritt. Die Patienten zeigen Gangstörungen, sind aber weiterhin gehfähig. Eine leichte Beteiligung der oberen Gliedmaßen kann beobachtet werden."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2T","synonyms":["CMT2T","CMT2T-AR","Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva tipo 2T"],"definition":"Es una neuropatía axonal sensitivo-motora autosómica recesiva poco frecuente que se caracteriza por la aparición en el adulto de debilidad y atrofia muscular distal lentamente progresiva, alteraciones sensitivas y disminución o ausencia de reflejos osteotendinosos, predominantemente en las extremidades inferiores. Los pacientes presentan alteraciones de la marcha pero permanecen ambulatorios. Puede observarse afectación leve de las extremidades superiores."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2T","synonyms":["CMT2T","CMT2T-AR","Malattia di Charcot-Marie-Tooth assonale autosomica recessiva tipo 2T"],"definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica recessiva, che esordisce nell'età adulta con debolezza e atrofia dei muscoli distali a progressione lenta, deficit sensoriale e riduzione o assenza dei riflessi tendinei profondi, che interessa prevalentemente gli arti inferiori. I pazienti presentano anomalie dell'andatura ma mantengono la capacità di camminare. Può associarsi ad un lieve interessamento degli arti superiori."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2T","synonyms":["AR-CMT2T","Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2T","CMT2T"],"definition":"Een zeldzame, autosomaal recessieve hereditaire axonale motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve distale spierzwakte en -atrofie, sensorische stoornis, en verminderde of afwezige diepe peesreflexen, hoofdzakelijk in onderste ledematen. Patiënten vertonen gangstoornissen maar behouden het vermogen zelfstandig te kunnen lopen. Mogelijk wordt milde betrokkenheid van bovenste ledematen waargenomen."},"pt":{"name":"Doença Charcot-Marie-Tooth tipo 2T","synonyms":["Doença Charcot-Marie-Tooth tipo 2T axonal autossomica recessiva","CMT2T","CMT2T-AR"]},"pl":{"name":"Choroba Charcota, Mariego i Tootha, typu 2T","synonyms":["Choroba Charcota, Mariego i Tootha aksonalna, autosomalna recesywna, typu 2T"]},"cs":{"name":"Charcot-Marie-Toothova nemoc, typ 2T","synonyms":["CMT2T","AR-CMT2T","Autozomálně recesivní, primárně axonální Charcot-Marie-Toothova nemoc, typ 2T"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2Т","synonyms":["AR-CMT2T","Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2Т","CMT2T"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen."},"zh":{"name":"夏科特-玛丽齿病2T型","synonyms":["常染色体隐性夏洛特-玛丽齿病2T型"],"definition":"一种罕见的常染色体隐性轴索遗传性运动和感觉神经病，特点是成年后开始出现缓慢进行性的远端肌肉无力和萎缩、感觉障碍，主要是下肢深部腱反射减弱或消失。患者出现步态障碍，但仍可行走。上肢轻度受累亦可见。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 2T","synonyms":["CMT2T","AR-CMT2T","Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2T"]}},"xrefs":[{"source":"OMIM","code":"617017","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044640","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MME","name":"membrane metalloendopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26991897[PMID]","hgnc":"7154","ensembl":"ENSG00000196549","omim":"120520","loci":["3q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26991897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26991897[PMID]"}],"phenotypes":null}