{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant demyelinating Charcot-Marie-Tooth disease","CMT1","Charcot-Marie-Tooth neuropathy type 1","Hereditary motor and sensory neuropathy type 1"],"definition":"Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65753/","orphanet_url":"https://www.orpha.net/en/disease/detail/65753","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1","synonyms":["CMT1","Maladie de Charcot-Marie-Tooth démyélinisante autosomique dominante","Neuropathie Charcot-Marie-Tooth type 1","Neuropathie sensitivo-motrice héréditaire type 1"],"definition":"Groupe de neuropathies périphériques démyélinisantes autosomiques dominantes caractérisé par une faiblesse et une atrophie distales, une perte sensitive, des déformations du pied et une vitesse de conduction nerveuse lente."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1","synonyms":["CMT1","Charcot-Marie-Tooth-Krankheit, demyeliniserende, autosomal-dominante","Charcot-Marie-Tooth-Neuropathie Typ 1","Neuropathie, hereditäre motorisch-sensorische, Typ 1"],"definition":"Die Charcot-Marie-Tooth-Erkrankung Typ 1 (CMT1) umfasst eine Gruppe von autosomal-dominant vererbten demyelinisierenden, peripheren Neuropathien, die durch eine distale Schwäche und Atrophie, Sensibilitätsverlust, Fußdeformitäten und verlangsamter Nervenleitgeschwindigkeit charakterisiert sind."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1","synonyms":["Enfermedad de Charcot-Marie-Tooth desmielinizante autosómica dominante","Neuropatía de Charcot-Marie-Tooth tipo 1"],"definition":"La enfermedad de Charcot-Marie-Tooth tipo 1 (CMT1) es un grupo de neuropatías periféricas desmielinizantes autosómicas dominantes caracterizadas por debilidad y atrofia distal, pérdida sensorial, deformidades del pie y una baja velocidad de conducción nerviosa."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 1","synonyms":["CMT1","Malattia di Charcot-Marie-Tooth demielinizzante, autosomica dominante","Neuropatia di Charcot-Marie-Tooth, tipo 1","Neuropatia sensitivo-motoria ereditaria, tipo 1"],"definition":"La malattia di Charcot-Marie-Tooth tipo 1 (CMT1) appartiene al gruppo delle neuropatie periferiche demielinizzanti autosomiche dominanti, caratterizzate da atrofia e debolezza distale, perdita sensoriale, deformità dei piedi e rallentamento della velocità della conduzione nervosa."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1","synonyms":["Autosomaal dominante demyeliniserende ziekte van Charcot-Marie-Tooth","CMT1","Charcot-Marie-Tooth neuropathie type 1","Erfelijke motorische en sensorische neuropathie type 1"],"definition":"Ziekte van Charcot-Marie-Tooth type 1 (CMT1) vormt een groep autosomaal dominante demyeliniserende perifere neuropathieën die gekarakteriseerd worden door distale zwakte en atrofie, zintuiglijk verlies, voetmisvormingen, en trage zenuwgeleidingssnelheid."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1","synonyms":["CMT1","Doença de Charcot-Marie-Tooth desmilinizante"]},"pl":{"name":"Choroba Charcot, Marie i Tooth typu 1","synonyms":["Autosomalna dominująca demielinizująca choroba Charcot, Marie i Tooth","CMT1","Dziedziczna neuropatia ruchowa i czuciowa typu 1"],"definition":"Choroba Charcota, Mariego i Tootha typu 1 (CMT1) to grupa autosomalnie dominujących demielinizujących neuropatii obwodowych charakteryzująca się osłabieniem i atrofią mięśni dystalnych, utratą czucia, zniekształceniem stóp oraz spowolnieniem prędkości przewodnictwa nerwowego."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1","synonyms":["CMT1","Charcotova-Marieova-Toothova neuropatie, typ 1","Hereditární motorická a senzorická neuropatie, typ 1","Autozomálně dominantní demyelinizační Charcotova-Marieova-Toothova nemoc","Charcot-Marie-Toothova nemoc, typ 1","Autozomálně dominantní demyelinizační Charcot-Marie-Toothova nemoc","Charcot-Marie-Toothova neuropatie, typ 1"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1","synonyms":["Аутосомно-домінантна демієлінізуюча хвороба Шарко-Марі-Тута","Невропатія Шарко-Марі-Тута, тип 1","CMT1","Спадкова моторна та сенсорна нейропатія типу 1"],"definition":"Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity."},"zh":{"name":"腓骨肌萎缩症1型","synonyms":["常染色体显性遗传性脱髓鞘Charcot-Marie-Tooth病"]},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1","synonyms":["CMT1","Charcot-Marie-Tooth nöropati tip 1","Kalıtsal motor ve duyusal nöropati tip 1","Otozomal dominant demiyelinizan Charcot-Marie-Tooth hastalığı"]}},"xrefs":[{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"686663858"},{"source":"MONDO","code":"0019011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751036","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12433","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":101081,"name":"Charcot-Marie-Tooth disease type 1A","type":"Disease"},{"orpha":101082,"name":"Charcot-Marie-Tooth disease type 1B","type":"Disease"},{"orpha":101083,"name":"Charcot-Marie-Tooth disease type 1C","type":"Disease"},{"orpha":101084,"name":"Charcot-Marie-Tooth disease type 1D","type":"Disease"},{"orpha":90658,"name":"Charcot-Marie-Tooth disease type 1E","type":"Disease"},{"orpha":101085,"name":"Charcot-Marie-Tooth disease type 1F","type":"Disease"},{"orpha":730332,"name":"Charcot-Marie-Tooth disease type 1J","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Worldwide","status":"Validated","source":"20301384[PMID]"}],"phenotypes":null}