{"orpha":99952,"name":"Charcot-Marie-Tooth disease type 4F","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4F"],"definition":"A form of severe, demyelinating Charcot-Marie-Tooth disease type&nbsp;4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99952/","orphanet_url":"https://www.orpha.net/en/disease/detail/99952","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4F","synonyms":["CMT4F"],"definition":"Forme sévère et démyélinisante de la maladie de Charcot-Marie-Tooth type&nbsp;4 caractérisée par la survenue pendant l'enfance du phénotype typique, lentement progressif de la CMT (faiblesse et atrophie musculaires distales, pieds creux) se manifestant par une perte sévère de sensibilité (souvent associée à une ataxie sensorielle), un ralentissement modéré à sévère des vitesses de conduction nerveuse, l'absence presque invariable de potentiels d'actions des nerfs sensitifs et la présence de retard moteur."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4F","synonyms":["CMT4F"],"definition":"Ein schwerer, demyelinisierender Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4 mit Beginn im Kindesalter, der gekennzeichnet ist durch die Ausprägung eines langsam fortschreitenden typischen CMT-Phänotyps (d.h. distale Muskelschwäche und -atrophie sowie Pes cavus). Patienten zeigen einen schweren sensorischen Verlust (häufig mit sensorischer Ataxie), mäßig bis stark reduzierte motorische Nervenleitgeschwindigkeiten und fast ausnahmslos fehlende sensorische Nervenaktionspotentiale. Motorische Meilensteine sind verzögert."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4F","definition":"Es un subtipo desmielinizante grave de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por el inicio en la infancia de un fenotipo típico de CMT (es decir, debilidad y atrofia muscular distal y pie cavo) de progresión lenta que presenta una grave pérdida sensitiva (frecuentemente con ataxia sensitiva), reducción de la velocidad de conducción nerviosa motora de moderada a grave y ausencia prácticamente invariable de los potenciales de acción sensoriales, así como de retraso de los hitos motores."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4F","synonyms":["CMT4F"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4F (CMT4F) è una forma grave e demielinizzante della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata dal quadro clinico caratteristico della CMT (debolezza e atrofia dei muscoli distali, piede cavo) a progressione lenta, ad esordio nell'infanzia con grave perdita sensoriale (spesso con atassia sensoriale), riduzione moderata o grave delle velocità di conduzione dei nervi motori, assenza dei potenziali d'azione nel nervo sensoriale (pressoché costante) e ritardo dello sviluppo motorio."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4F","synonyms":["CMT4F"],"definition":"Ziekte van Charcot-Marie-Tooth 4F (CMT4F) is een ernstig, demyeliniserend subtype van Charcot-Marie-Tooth type 4 en wordt gekarakteriseerd door een traag progressief typisch CMT-fenotype (i.e. distale spierzwakheid en -atrofie, alsook pes cavus (holvoet)) dat aanvangt in de kindertijd. De ziekte uit zich met ernstig zintuigelijk verlies (vaak met sensorische ataxie), matig tot ernstig gereduceerde zenuwgeleidingssnelheden en bijna altijd afwezigheid van actiepotentialen bij sensorische zenuwen, en vertraagde motorische mijlpalen."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4F","definition":"A doença de Charcot-Marie-Tooth, tipo 4F (CMT4F) é uma polineuropatia periférica sensitivomotora desmielinizante."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4F","synonyms":["CMT4F"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4F","synonyms":["CMT4F","Charcot-Marie-Toothova nemoc, typ 4F"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4F","synonyms":["CMT4F"],"definition":"Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones."},"zh":{"name":"腓骨肌萎缩症4F型","synonyms":["CMT4F"],"definition":"Charcot-Marie-Tooth病4F型(CMT4F)是4型Charcot-Marie-Tooth病的一种严重的脱髓鞘亚型，其特征是童年时出现缓慢进展的典型CMT表型(即远端肌肉无力和萎缩，以及下腔静脉畸形)，表现为严重的感觉丧失(经常伴有感觉性共济失调)，运动神经传导速度中度到重度降低，感觉神经动作电位几乎不变，运动里程碑延迟。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4F","synonyms":["CMT4F"]}},"xrefs":[{"source":"OMIM","code":"614895","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":"330503211"},{"source":"MONDO","code":"0013959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2608082","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64749,"name":"Charcot-Marie-Tooth disease type 4","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRX","name":"periaxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301641[PMID]","hgnc":"13797","ensembl":"ENSG00000105227","omim":"605725","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}