{"orpha":101075,"name":"X-linked Charcot-Marie-Tooth disease type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1X","CMTX1"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101075/","orphanet_url":"https://www.orpha.net/en/disease/detail/101075","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 1","synonyms":["CMT1X","CMTX1"],"definition":"Neuropathie sensitivo-motrice périphérique génétique rare, caractérisée par un mode de transmission dominant lié à l'X et par l'apparition à l'adolescence chez les garçons d'une faiblesse et d'une atrophie musculaires progressives, distales, modérées à sévères des membres inférieurs et des muscles intrinsèques de la main, d'un pied creux, d'un pied tombant bilatéral, de réflexes tendineux diminués voire abolis, ainsi que d'un déficit sensitif léger à modéré au niveau des membres inférieurs. Les femmes ont tendance à développer des manifestations plus légères ou peuvent être asymptomatiques. Une surdité de perception et une atteinte du système nerveux central (souvent transitoire) ont également été rapportées."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1","synonyms":["CMTX1"],"definition":"Eine seltene periphere sensomotorische Neuropathie, die bei männlichen Betroffenen in der Adoleszenz beginnt und sich mit fortschreitender, distaler, mäßiger bis schwerer Muskelschwäche und -atrophie der unteren Extremitäten und der intrinsischen Handmuskulatur, Pes cavus, beidseitiger Fußsenkung, reduzierten oder fehlenden Sehnenreflexen sowie leichten bis mäßigen sensorischen Beeinträchtigungen der unteren Extremitäten manifestiert. Es wurde auch über eine sensorineurale Taubheit und eine (oft vorübergehende) Beteiligung des zentralen Nervensystems berichtet. Die Störung ist genetisch bedingt und wird X-chromosomal-dominante vererbt. Frauen zeigen in der Regel mildere Manifestationen oder können asymptomatisch sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 1","synonyms":["CMT1X","CMTX1"],"definition":"Es una neuropatía sensitivomotora periférica, poco frecuente y de base genética, caracterizada por un patrón de herencia dominante ligado al cromosoma X y por el inicio en varones, en la adolescencia, de debilidad muscular distal progresiva, de moderada a grave, y de atrofia de las extremidades inferiores y de los músculos intrínsecos de la mano, pie cavo, pie caído bilateral y disminución/ausencia de reflejos tendinosos, así como afectación sensitiva de leve a moderada en las extremidades inferiores. Las mujeres tienden a presentar manifestaciones más leves o pueden permanecer asintomáticas. También se ha descrito sordera neurosensorial y afectación (a menudo transitoria) del sistema nervioso central."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 1","synonyms":["CMT1X","CMTX1"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 1 è una neuropatia sensitivo-motoria periferica rara, di origine genetica, a trasmissione dominante legata all'X. La malattia esordisce durante l'infanzia (nei maschi prima dei 10 anni) con debolezza e atrofia progressiva, lieve-moderata, dei muscoli distali degli arti inferiori e dei muscoli intrinseci della mano, piede cavo, piedi cadenti, riduzione o assenza dei riflessi tendinei, deficit sensoriale lieve o moderato agli arti inferiori. Le femmine sviluppano di solito segni clinici più lievi, oppure sono asintomatiche. Sono stati descritti pazienti con sordità neurosensoriale e interessamento del sistema nervoso centrale."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 1","synonyms":["CMT1X","CMTX1"],"definition":"Een zeldzame, genetische perifere sensomotorische neuropathie, gekenmerkt door een X-gebonden dominant overervingspatroon en aanvang bij mannen in de adolescentie van progressieve, distale, matige tot ernstige spierzwakte en -atrofie in de onderste ledematen en intrinsieke handspieren, pes cavus, bilaterale klapvoet, gereduceerde of afwezige peesreflexen, alsook milde tot matige sensorische stoornissen in de onderste ledematen. Vrouwen vertonen eerder mildere manifestaties of kunnen asymptomatisch zijn. Sensorineurale doofheid en (vaak voorbijgaande) betrokkenheid van het centrale zenuwstelsel werden ook reeds gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth ligada ao X tipo 1","definition":"Neuropatia sensorimotora periférica genética rara caracterizada por um padrão de hereditariedade dominante ligado ao X e início na adolescência em individuos masculinos com fraqueza muscular progressiva, distal, moderada a grave e atrofia nas extremidades inferiores e músculos intrínsecos da mão, pé cavo, queda bilateral do pé, reflexos tendinosos reduzidos ou ausentes, bem como compromisso sensorial leve a moderado nas extremidades inferiores. Em indivíduos femininos existe tendência a manifestações mais leves ou podem ser assintomáticas. Surdez neurossensorial e envolvimento (frequentemente transitório) do sistema nervoso central também foram relatados."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1 sprzężona z chromosomem X","synonyms":["CMT1X","CMTX1"],"definition":"Rzadka, genetycznie uwarunkowana obwodowa neuropatia czuciowo-ruchowa o dziedziczeniu dominującym sprzężonym z chromosomem X i początkiem w okresie dojrzewania u mężczyzn. Charakteryzuje się postępującym, umiarkowanym lub ciężkim osłabieniem i zanikiem mięśni w dystalnych odcinkach kończyn dolnych oraz wewnętrznych mięśni dłoni, stopą wydrążoną, obustronnym opadaniem stopy, osłabieniem lub brakiem odruchów ścięgnistych, a także łagodnymi lub umiarkowanie nasilonymi zaburzeniami czucia w kończynach dolnych. U kobiet objawy są łagodniejsze lub nie występują. Zgłaszano również niedosłuch czuciowo-nerwowy i (często przemijające) objawy ze strony ośrodkowego układu nerwowego."},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc, typ 1","synonyms":["CMT1X","CMTX1","X-vázaná Charcot-Marie-Toothova nemoc, typ 1"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 1","synonyms":["CMT1X","CMTX1"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported."},"zh":{"name":"X连锁遗传夏科-马里-图斯病1型","synonyms":["CMT1"],"definition":"X连锁Charcot-Marie-Tooth病I型是一种罕见的遗传性外周感觉运动性神经病，其特征是X连锁显性遗传模式，儿童时期(男性在最初10年内)出现进行性下肢远端和手内肌中度到重度的肌无力和肌萎缩，高弓足、双侧足下垂、肌腱反射减弱或缺失，以及下肢轻度至中度感觉障碍。女性往往有较轻的症状或可能没有症状。感觉神经性耳聋和中枢神经系统受累也有报道。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 1","synonyms":["CMT1X","CMTX1"]}},"xrefs":[{"source":"OMIM","code":"302800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1209385265"},{"source":"MONDO","code":"0010549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393808","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","classifications":[147,156,181,200]}],"children":[],"genes":[{"symbol":"GJB1","name":"gap junction protein beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301548[PMID]","hgnc":"4283","ensembl":"ENSG00000169562","omim":"304040","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"20301548[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}