{"orpha":99951,"name":"Charcot-Marie-Tooth disease type 4E","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive congenital hypomyelinating neuropathy","CMT4E"],"definition":"A form of congenital, hypomyelinating Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and foot deformity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99951/","orphanet_url":"https://www.orpha.net/en/disease/detail/99951","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4E","synonyms":["CMT4E"],"definition":"Forme congénitale hypomyélinisante de la maladie de Charcot-Marie-Tooth type 4, caractérisée par un phénotype rappelant le syndrome de Dejerine-Sottas (incluant une hypotonie et/ou un retard de développement moteur dans la petite enfance), des vitesses de conduction nerveuse extrêmement ralenties, une atteinte respiratoire potentielle, une atteinte des nerfs crâniaux, et le phénotype typique de CMT (faiblesse et atrophie musculaires distales, perte sensitive, absence de réflexes tendineux profonds et déformation des pieds)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4E","synonyms":["CMT4E","Hypomyelinisationsneuropathie, kongenitale"],"definition":"Die Charcot-Marie-Tooth-Krankheit Typ 4E (CMT4E) ist ein angeborener, hypomyelinisierender Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch einen Dejerine-Sottas-Syndrom-ähnlichen Phänotyp (inkl. Hypotonie und/oder verzögerter motorischer Entwicklung im Säuglingsalter), extrem langsame Nervenleitgeschwindigkeiten, potenzielle respiratorische Dysfunktion, Hirnnervenbeteiligung und den typischen CMT-Phänotyp, d. h. distale Muskelschwäche und -atrophie, Sensibilitätsverlust und Fußdeformität, gekennzeichnet ist."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4E","definition":"La enfermedad de Charcot-Marie-Tooth tipo 4E (CMT4E) es un subtipo congénito e hipomielinizante de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por un fenotipo similar al síndrome de Dejerine-Sottas (incluyendo la hipotonía y/o retraso del desarrollo motor en la infancia temprana), velocidades de conducción nerviosa extremadamente lentas, potencial disfunción respiratoria, afectación de nervios craneales y el fenotipo típico de CMT, es decir, debilidad y atrofia muscular distal, pérdida sensorial y deformidad del pie."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4E","synonyms":["Neuropatia ipomielinizzante congenita autosomica recessiva"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4E (CMT4E) è una forma congenita e demielinizzante della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata da un quadro clinico che ricorda la sindrome di Dejerine-Sottas (ipotonia e/o ritardo dello sviluppo motorio nell'infanzia), velocità di conduzione nervosa molto ridotta, possibile insufficienza respiratoria, interessamento dei nervi cranici, associati al quadro clinico caratteristico della CMT (debolezza e atrofia dei muscoli distali, perdita sensoriale e deformità dei piedi)."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4E","synonyms":["CMT4E","Autosomaal recessieve congenitale hypomyeliniserende neuropathie"],"definition":"Ziekte van Charcot-Marie-Tooth 4E (CMT4E) is een congenitaal, hypomyeliniserend subtype van Charcot-Marie-Tooth type 4 dat wordt gekarakteriseerd door een Dejerine-Sottas syndroom-achtig fenotype (inclusief hypotonie en/of vertraagde motorische ontwikkeling in de zuigelingentijd), extreem lage zenuwgeleidingssnelheden, potentiële respiratoire dysfunctie, betrokkenheid van hersenzenuwen, en het typische CMT-fenotype (i.e. distale spierzwakheid en -atrofie, zintuigelijk verlies, en misvorming van de voet)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4E"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4E","synonyms":["Autosomalna recesywna wrodzona neuropatia hipomielinizująca","CMT4E"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4E","synonyms":["CMT4E","Autozomálně recesivní vrozená hypomyelinizační neuropatie","Charcot-Marie-Toothova nemoc, typ 4E"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4Е","synonyms":["Аутосомно-рецесивна вроджена гіпомієлінізуюча нейропатія","CMT4E"],"definition":"Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."},"zh":{"name":"腓骨肌萎缩症4E型","synonyms":["常染色体隐性遗传性先天性髓鞘减少性神经病"],"definition":"Charcot-Marie-Tooth病4E(CMT4E)是4型Charcot-Marie-Tooth病的一种先天性低髓鞘化亚型，其特征为Dejerine-Sottas综合征样表型(包括肌张力低下和/或婴儿期运动发育延迟)，神经传导速度极慢，潜在的呼吸功能障碍，颅神经受累，以及典型的CMT表型，即远端肌肉无力和萎缩，感觉丧失和足部畸形。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4E","synonyms":["CMT4E","Otozomal Çekinik Doğumsal hipomiyelinizan nöropati"]}},"xrefs":[{"source":"OMIM","code":"605253","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":"225958466"},{"source":"MONDO","code":"0011527","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721437","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":"EGR2","name":"early growth response 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301641[PMID]","hgnc":"3239","ensembl":"ENSG00000122877","omim":"129010","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}