{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CMTX","X-linked hereditary motor and sensory neuropathy"],"definition":"A group of rare genetic peripheral neuropathies characterized by slowly progressive sensory-motor involvement leading to muscle weakness, atrophy and sensory loss, mainly affecting the distal limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64747/","orphanet_url":"https://www.orpha.net/en/disease/detail/64747","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X","synonyms":["CMTX","Neuropathie sensitivo-motrice héréditaire liée à l'X"],"definition":"Groupe de neuropathies périphériques génétiques rares caractérisées par une atteinte sensitivomotrice à progression lente entraînant une faiblesse et une atrophie musculaires, et une perte sensitive, affectant principalement les membres distaux."},"de":{"name":"X-chromosomale Charcot-Marie-Tooth-Krankheit","synonyms":["CMTX","Neuropathie, hereditäre motorisch-sensorische, X-chromosomale"],"definition":"Eine Gruppe seltener genetisch bedingter peripherer Neuropathien, die durch eine langsam fortschreitende sensorisch-motorische Beeinträchtigung gekennzeichnet sind, die zu Muskelschwäche, Atrophie und Gefühlsverlust führt und hauptsächlich die distalen Gliedmaßen betrifft."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X","synonyms":["CMTX","Neuropatía hereditaria sensitivo-motora ligada al cromosoma X"],"definition":"Es un grupo de neuropatías periféricas poco frecuentes de origen genético caracterizadas por una afectación sensitivo-motora lentamente progresiva que conduce a debilidad muscular, atrofia y pérdida sensorial, implicando principalmente a las extremidades distales."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X","synonyms":["CMTX"]},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth","synonyms":["CMTX","X-gebonden erfelijke motorische en sensorische neuropathie"],"definition":"Een groep van zeldzame genetische perifere neuropathieën, gekenmerkt door traag progressieve sensorimotorische betrokkenheid die leidt tot spierzwakte en -atrofie en zintuiglijk verlies, vooral in distale ledematen."},"pt":{"name":"Charcot-Marie-Tooth ligada ao X","synonyms":["CMTX"],"definition":"Grupo de neuropatias periféricas genéticas raras caracterizadas por envolvimento sensório-motor lentamente progressivo, levando à fraqueza muscular, atrofia e perda sensorial, afetando principalmente os membros distais."},"pl":{"name":"Choroba Charcota, Mariego i Tootha sprzężona z chromosomem X","synonyms":["CMTX","Dziedziczna neuropatia ruchowa i czuciowa sprzęzona z chromosomem X"]},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc","synonyms":["CMTX","X-vázaná Charcot-Marie-Toothova nemoc"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута","synonyms":["CMTX","Х-зчеплена спадкова моторна та сенсорна нейропатія"],"definition":"A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."},"zh":{"name":"X连锁腓骨肌萎缩症","synonyms":["X-连锁遗传性运动感觉神经病"]},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı","synonyms":["CMTX","X'e bağlı kalıtsal motor ve duyusal nöropati"]}},"xrefs":[{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048660792"},{"source":"MONDO","code":"0018994","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551551","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12444","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":140462,"name":"OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166,"name":"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":101075,"name":"X-linked Charcot-Marie-Tooth disease type 1","type":"Disease"},{"orpha":101076,"name":"X-linked Charcot-Marie-Tooth disease type 2","type":"Disease"},{"orpha":101077,"name":"X-linked Charcot-Marie-Tooth disease type 3","type":"Disease"},{"orpha":101078,"name":"X-linked Charcot-Marie-Tooth disease type 4","type":"Disease"},{"orpha":99014,"name":"X-linked Charcot-Marie-Tooth disease type 5","type":"Disease"},{"orpha":352675,"name":"X-linked Charcot-Marie-Tooth disease type 6","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}