{"orpha":101076,"name":"X-linked Charcot-Marie-Tooth disease type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTX2"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101076/","orphanet_url":"https://www.orpha.net/en/disease/detail/101076","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 2","synonyms":["CMTX2"],"definition":"Neuropathie sensitivo-motrice périphérique génétique rare, caractérisée par un mode de transmission récessif lié à l'X et par l'apparition, entre la petite enfance et l'enfance, d'une faiblesse et d'une atrophie musculaires distales progressives (plus marquées dans les membres inférieurs que dans les membres supérieurs), d'un pied creux et d'une absence de réflexes tendineux. Un déficit sensitif et une déficience intellectuelle ont été décrits chez certains patients."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2","synonyms":["CMTX2"],"definition":"Eine seltene periphere sensomotorische Neuropathie, die im Kindesalter zu fortschreitender, distaler Muskelschwäche und -atrophie (in den unteren Extremitäten ausgeprägter als in den oberen), Pes cavus und fehlenden Sehnenreflexen führt. Bei einigen Personen wurde über sensorische Beeinträchtigungen und Intelligenzminderung berichtet. Die Störung ist genetisch bedingt und wird X-chromosomal-rezessiv vererbt."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 2","synonyms":["CMTX2"],"definition":"Es una neuropatía sensitivomotora periférica, poco frecuente y de base genética, caracterizada por un patrón de herencia recesivo ligado al cromosoma X y por el inicio en la infancia de debilidad y atrofia muscular distal progresiva (más acentuada en las extremidades inferiores que en las superiores), pie cavo y ausencia de reflejos tendinosos. En algunos individuos se ha descrito afectación sensitiva y discapacidad intelectual."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 2","synonyms":["CMT2X","CMTX2"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 2 è una neuropatia sensitivo-motoria periferica rara, di origine genetica, a trasmissione recessiva legata all'X. La malattia esordisce nel periodo neonatale o durante l'infanzia con debolezza e atrofia progressive dei muscoli distali (più marcate agli arti inferiori rispetto a quelli superiori), piede cavo e assenza dei riflessi tendinei. Alcuni pazienti presentano deficit sensoriali e disabilità intellettiva."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 2","synonyms":["CMTX2"],"definition":"Een zeldzame, genetische perifere sensomotorische neuropathie, gekenmerkt door een X-gebonden recessief overervingspatroon en aanvang in de zuigelingen- tot kindertijd van progressieve, distale spierzwakte en -atrofie (prominenter in de onderste ledematen dan in de bovenste ledematen), pes cavus, en afwezige peesreflexen. Bij sommige individuen werden sensorische beperkingen en intellectuele achterstand gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth ligada ao X tipo 2","definition":"Neuropatia sensoriomotora periférica genética rara caracterizada por um padrão de hereditariedade recessiva ligada ao X e o início infantil para a infância de fraqueza muscular distal progressiva e atrofia (mais proeminente nas extremidades inferiores do que nas extremidades superiores), pes cavus e reflexos tendinosos ausentes. Défice sensorial e perturbação do desenvolvimento intelectual foram relatadas em alguns indivíduos."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2 sprzężona z chromosomem X","synonyms":["CMT2X","CMTX2"],"definition":"Rzadka, genetycznie uwarunkowana obwodowa neuropatia czuciowo-ruchowa o dziedziczeniu recesywnym sprzężonym z chromosomem X. Charakteryzuje się postępującym osłabieniem i zanikiem mięśni dystalnych (bardziej nasilonym w kończynach dolnych niż górnych),z wydrążoną stopą i brakiem odruchów ścięgnistych. U niektórych osób występują zaburzenia czucia oraz niepełnosprawność intelektualna."},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc, typ 2","synonyms":["CMTX2","X-vázaná Charcot-Marie-Toothova nemoc, typ 2"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 2","synonyms":["CMTX2"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals."},"zh":{"name":"X连锁遗传夏科-马里-图斯病2型","synonyms":["CMT2"],"definition":"X连锁Charcot-Marie-Tooth病2型是一种罕见的遗传性外周感觉运动性神经病，其特征为X连锁隐性遗传，婴儿期至儿童期起病，表现为进行性、远端肌肉无力和萎缩(下肢比上肢更明显)、高弓足和肌腱反射缺失。据报道，一些人出现了感觉障碍和智力障碍。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 2","synonyms":["CMTX2"]}},"xrefs":[{"source":"OMIM","code":"302801","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1035294096"},{"source":"MONDO","code":"0010550","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844873","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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"1557086[PMID]_1674639[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1557086[PMID]_1674639[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-05","source":"15955956[PMID]_1557086[PMID]_1674639[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011727","label":"Peroneal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011399","label":"Tibialis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031866","label":"Clasp-knife sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}