{"orpha":352670,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDIF"],"definition":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352670/","orphanet_url":"https://www.orpha.net/en/disease/detail/352670","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F","synonyms":["CMTDIF"],"definition":"Neuropathie sensitivo-motrice héréditaire rare, caractérisée par le phénotype typique de CMT (atrophie musculaire distale lentement progressive et faiblesse des membres supérieurs et inférieurs, perte sensorielle distale dans les extrémités, réflexes tendineux profonds réduits ou absents et déformations du pied), la biopsie nerveuse démontrant des changements démyélinisants et axonaux et des vitesses de conduction nerveuse variant entre une CMT démyélinisante et axonale."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ F"},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo F","synonyms":["CMTDIF"],"definition":"Es una neuropatía sensitivo-motora, hereditaria y poco frecuente, caracterizada por el fenotipo típico de la enfermedad de Charcot-Marie-Tooth (CMT) (atrofia muscular distal lentamente progresiva y debilidad en los miembros superiores e inferiores, déficit sensitivo distal en las extremidades, reflejos osteotendinosos reducidos o ausentes y malformaciones del pie). Las biopsias de nervio muestran desmielinización y cambios axonales, y las velocidades de conducción nerviosa varían en el rango de desmielinización a axonal."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo F","synonyms":["CMTDIF"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo F è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata dal quadro clinico tipico della CMT (debolezza ed atrofia a progressione lenta dei muscoli distali degli arti, perdita sensoriale distale negli arti, riduzione o assenza dei riflessi tendinei profondi e deformità dei piedi), associato ad alterazioni demielinizzanti ed assonali sulla biopsia dei nervi; la velocità di conduzione nervosa varia tra quella delle patologie demielinizzanti e quella delle patologie assonali."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type F","synonyms":["CMTDIF"],"definition":"Een zeldzame, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door het typische fenotype van CMT (traag progressieve distale spierzwakte en -atrofie in bovenste en onderste ledematen, distaal zintuiglijk verlies in ledematen, verminderde of afwezige diepe peesreflexen, en voetmisvormingen), met demyelinisatie en axonale veranderingen aangetoond door zenuwbiopsie en zenuwgeleidingssnelheden die variëren van het demyeliniserende tot axonale gebied."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo F"},"pl":{"name":"Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha typu F","synonyms":["CMTDIF"]},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ F","synonyms":["CMTDIF","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ F"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип F","synonyms":["CMTDIF"],"definition":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range."},"zh":{"name":"常染色体显性中间型夏科-马里-图斯病F型","synonyms":["CMTDIF"],"definition":"本病是一种罕见的遗传性运动和感觉神经病，以典型的CMT表型(上下肢缓慢进行性远端肌萎缩和肌无力，四肢远端感觉丧失，深肌腱反射减少或缺失和足部畸形)为特征。神经活检显示脱髓鞘和轴突改变，神经传导速度改变从髓鞘脱失到轴突损害不等。"},"tr":{"name":"Otozomal dominant orta dereceli Charcot-Marie-Tooth hastalığı tip F","synonyms":["CMTDIF"]}},"xrefs":[{"source":"OMIM","code":"615185","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GNB4","name":"G protein subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23434117[PMID]","hgnc":"20731","ensembl":"ENSG00000114450","omim":"610863","loci":["3q26.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23434117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}