{"orpha":101078,"name":"X-linked Charcot-Marie-Tooth disease type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4X","CMTX4","Cowchock syndrome"],"definition":"A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101078/","orphanet_url":"https://www.orpha.net/en/disease/detail/101078","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 4","synonyms":["CMT4X","CMTX4","Syndrome de Cowchock"],"definition":"Neuropathie sensitivo-motrice périphérique axonale rare, d'origine génétique, caractérisée par un mode de transmission récessif lié à l'X et par l'apparition (entre la période néonatale et le début de l'enfance) d'une faiblesse et d'une atrophie musculaires distales sévères, lentement progressives (notamment des muscles péroniers) et de troubles sensitifs (les extrémités inférieures étant plus touchées que les supérieures), ainsi que par des pieds creux, une aréflexie et des orteils en griffe. Une perte auditive neurosensorielle et une atteinte cognitive peuvent aussi être associées. Les filles sont asymptomatiques et ne manifestent pas le phénotype."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 4","synonyms":["CMTX4","Cowchock-Syndrom"],"definition":"Eine seltene axonale periphere sensomotorische Neuropathie, die durch das Auftreten von schwerer, langsam fortschreitender, distaler Muskelschwäche und -atrophie (insbesondere der Peronealgruppe) sowie sensorischen Beeinträchtigungen (wobei die unteren Extremitäten stärker betroffen sind als die oberen), Pes cavus, Areflexie und Hammerzehen gekennzeichnet ist. Schallempfindungsschwerhörigkeit und kognitive Beeinträchtigungen können ebenfalls auftreten. Die Störung ist genetisch bedingt und wird X-chromosomal-rezessiv vererbt. Frauen sind asymptomatisch und zeigen den Phänotyp nicht."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 4","synonyms":["CMT4X","CMTX4","Síndrome de Cowchock"],"definition":"Es una neuropatía axonal sensitivomotora periférica, poco frecuente y de base genética, caracterizada por un patrón de herencia recesivo ligado al cromosoma X y por el inicio, entre el periodo neonatal y la primera la infancia, de debilidad y atrofia muscular distal grave lentamente progresiva (en particular, peroneal), así como como afectación sensitiva (más pronunciada en las extremidades inferiores que en las superiores), pie cavo, arreflexia y dedos de los pies en martillo. También puede asociar hipoacusia neurosensorial y afectación cognitiva. Las mujeres permanecen asintomáticas y no presentan el fenotipo."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 4","synonyms":["CMT4X","CMTX4","Sindrome di Cowchock"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 4 è una neuropatia sensitivo-motoria periferica assonale rara, di origine genetica, a trasmissione recessiva legata all'X. La malattia esordisce nel periodo neonatale o infantile con debolezza e atrofia gravi a progressione lenta dei muscoli distali (soprattutto del gruppo del perone), deficit sensoriali (con un maggiore interessamento delle estremità inferiori rispetto a quelle superiori), piede cavo, areflessia e dita dei piedi a martello. Possono associarsi sordità neurosensoriale e deficit cognitivi. Le femmine sono asintomatiche e non presentano il quadro clinico caratteristico."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 4","synonyms":["CMT4X","CMTX4","Syndroom van Cowchock"],"definition":"Een zeldzame, genetische axonale perifere sensomotorische neuropathie, gekenmerkt door een X-gebonden recessief overervingspatroon en aanvang in de neonatale tot vroege kindertijd van ernstige, traag progressieve, distale spierzwakte en -atrofie (vooral van de peroneusspieren), alsook sensorische beperkingen (waarbij de onderste ledematen meer getroffen worden dan de bovenste ledematen), pes cavus, areflexie en hamertenen. Sensorineuraal gehoorverlies en cognitieve beperkingen kunnen ook geassocieerd zijn. Vrouwen zijn asymptomatisch en vertonen niet het fenotype."},"pt":{"name":"Doença de Charcot-Marie-Tooth, ligada ao X, tipo 4","definition":"Neuropatia sensório-motora periférica, axonal e genética rara, caracterizada por um padrão de hereditariedade recessiva ligada ao X e de início neonatal até a primeira infância de fraqueza muscular distal grave, lentamente progressiva e atrofia (em particular do grupo peroneal), bem como compromisso sensorial (com as extremidades inferiores sendo mais afetadas do que as extremidades superiores), pes cavus, arreflexia e dedos em martelo. Perda auditiva neurossensorial e comprometimento cognitivo também podem estar associados. Os indivíduos femininos são assintomáticos e não apresentam o fenótipo."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4 sprzężona z chromosomem X","synonyms":["CMT4X","CMTX4","Zespół Cowchocka"],"definition":"Rzadka, genetycznie uwarunkowana, aksonalna, obwodowa neuropatia czuciowo-ruchowa o dziedziczeniu recesywnym sprzężonym z chromosomem X, która charakteryzuje się ciężkim, powoli postępującym osłabieniem i zanikiem mięśni dystalnych (szczególnie grupy strzałkowej) o początku w okresie noworodkowym lub wczesnego dzieciństwa, a także zaburzeniami czucia (bardziej nasilonymi w kończynach dolnych niż górnych), stopą wydrążoną, brakiem odruchów i palcami młotkowatymi. Często występuje niedosłuch czuciowo-nerwowy i upośledzenie funkcji poznawczych. U kobiet nie występują objawy oraz cechy fenotypowe choroby."},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc, typ 4","synonyms":["CMT4X","CMTX4","Cowchockové syndrom","X-vázaná Charcot-Marie-Toothova nemoc, typ 4"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 4","synonyms":["CMT4X","CMTX4","Синдром коровячого хвоста"],"definition":"A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype."},"zh":{"name":"X连锁遗传夏科-马里-图斯病4型","synonyms":["Cowchock综合征"],"definition":"X连锁Charcot-Marie-Tooth病4型是一种罕见的遗传性轴索外周感觉运动神经病，其特征是X连锁隐性遗传，从新生儿到儿童早期-发病时出现严重的、缓慢进展的远端肌肉无力和萎缩(尤其是腓肠组)，以及感觉障碍(下肢比上肢受影响更大)、高弓足、反射障碍和锤状趾。感觉神经性听力损失和认知损害也可能相关。女性患者没有症状，也没有表型。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 4","synonyms":["CMT4X","CMTX4","Cowchock sendromu"]}},"xrefs":[{"source":"OMIM","code":"310490","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":"343003676"},{"source":"MONDO","code":"0010689","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795910","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":"AIFM1","name":"apoptosis inducing factor mitochondria associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23217327[PMID]","hgnc":"8768","ensembl":"ENSG00000156709","omim":"300169","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23217327[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23217327[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}