{"orpha":397968,"name":"Charcot-Marie-Tooth disease type 2R","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2R"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397968/","orphanet_url":"https://www.orpha.net/en/disease/detail/397968","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2R","synonyms":["CMT2R"],"definition":"Sous-type rare de neuropathie sensitivo-motrice héréditaire axonale caractérisé par une hypotonie axiale à début précoce, une faiblesse musculaire généralisée, une absence de réflexes tendineux profonds et une diminution de la masse musculaire. L'électromyographie révèle une diminution de la vitesse de conduction du nerf moteur avec des amplitudes sensorielles et motrices nettement réduites."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2R","synonyms":["CMT2R"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2R","synonyms":["CMT2R"],"definition":"La enfermedad de Charcot-Marie-Tooth (CMT) tipo 2R es un subtipo de la enfemedad de CMT axonal poco frecuente, caracterizada por hipotonía axial de inicio temprano, debilidad muscular generalizada, ausencia de reflejos tendinosos profundos y disminución de la masa muscular. La electromiografía revela velocidades de conducción nerviosa motora disminuidas con amplitudes sensitiva y motora notablemente reducidas."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 2R","synonyms":["CMT2R"],"definition":"La malattia di Charcot-Marie-Tooth tipo 2R è un sottotipo raro di neuropatia motoria e sensoriale assonale ereditaria, caratterizzata da ipotonia assiale ad esordio precoce, debolezza muscolare generalizzata, assenza dei riflessi tendinei profondi e riduzione delle masse muscolari. L'elettromiografia evidenzia una riduzione delle velocità di conduzione dei nervi, associata ad una marcata diminuzione delle ampiezze sensoriali e motorie."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2R","synonyms":["CMT2R"],"definition":"Ziekte van Charcot-Marie-Tooth type 2R is een zeldzaam subtype van axonale erfelijke motorische en sensorische neuropathie dat wordt gekarakteriseerd door vroege aanvang van axiale hypotonie, gegeneraliseerde spierzwakte, afwezige diepe peesreflexen en verminderde spiermassa. Elektromyografie toont verminderde motorische zenuwgeleidingssnelheden met duidelijk verlaagde sensorische en motorische amplitudes."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2R"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2R","synonyms":["CMT2R"],"definition":"*Choroba Charcota, Mariego i Tootha typu 2R jest rzadkim podtypem dziedzicznej aksonalnej neuropatii ruchowej i czuciowej, która charakteryzuje się hipotonią osiową o wczesnym początku, uogólnionym osłabieniem mięśni, brakiem głębokich odruchów ścięgnistych i zmniejszoną masą mięśniową. W elektromiografii obserwuje się zmniejszone prędkości przewodzenia we włóknach ruchowych nerwów z wyraźnie zmniejszonymi amplitudami odpowiedzi czuciowych i ruchowych."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2R","synonyms":["CMT2R","Charcot-Marie-Toothova nemoc, typ 2R"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2R","synonyms":["CMT2R"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes."},"zh":{"name":"Charcot-Marie-Tooth病2R型","synonyms":["CMT2R"],"definition":"夏科-玛丽-图斯病2R型是一种罕见的轴索遗传性运动和感觉神经病亚型，以早发型轴性低肌张力、泛发性肌无力、深反射缺失和肌肉量减少为特征。肌电图显示运动神经传导速度减慢，感觉和运动幅度显著降低。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tipi 2R","synonyms":["CMT2R"]}},"xrefs":[{"source":"OMIM","code":"615490","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809655","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":"TRIM2","name":"tripartite motif containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23562820[PMID]","hgnc":"15974","ensembl":"ENSG00000109654","omim":"614141","loci":["4q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"23562820[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23562820[PMID]"}],"phenotypes":null}