{"orpha":99955,"name":"Charcot-Marie-Tooth disease type 4B1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4B1"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99955/","orphanet_url":"https://www.orpha.net/en/disease/detail/99955","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4B1","synonyms":["CMT4B1"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type&nbsp;4, caractérisée par l'apparition en début d'enfance d'une neuropathie sensitivo-motrice démyélinisante sévère, divers degrés de repliement complexe de la myéline observés sur des biopsies de nerf périphérique, des vitesses de conduction nerveuse très lentes, souvent indétectables, associés au phénotype typique de la CMT (faiblesse et atrophie musculaire distale, perte sensorielle, pieds creux fréquemment observés). Les autres signes rapportés incluent une faiblesse faciale, une parésie des cordes vocales, des troubles respiratoires et des déformations squelettiques (déformations thoraciques, mains en griffe, pieds varus équins)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4B1","synonyms":["CMT4B1"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch eine im frühen Kindesalter auftretende schwere, demyelinisierende sensomotorische Neuropathie, verschiedene Grade komplexer Myelinausfaltungen in der peripheren Nervenbiopsie, sehr langsame und oft nicht nachweisbare Nervenleitgeschwindigkeiten und den typischen CMT-Phänotyp (d. h. distale Muskelschwäche und -atrophie, Sensibilitätsverlust und häufiger Pes cavus) gekennzeichnet ist. Zu den weiteren berichteten Merkmalen gehören Schwäche der Fazialmuskeln, Stimmbandparese, Atembeschwerden und Skelettdeformitäten (z. B. Brustkorbdeformitäten, Krallenhände, Pes equinovarus)."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4B1","definition":"La enfermedad de Charcot-Marie-Tooth tipo 4B1 (CMT4B1) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 de aparición en la infancia temprana caracterizado por una neuropatía sensitivo-motora desmielinizante grave con diversos grados de plegamiento complejo de la mielina observados en biopsias de nervio periférico, velocidad de conducción nerviosa muy lenta y a menudo indetectable, y el típico fenotipo CMT (es decir, debilidad y atrofia muscular distal, pérdida sensorial y pie cavo frecuente). Otras características reportadas incluyen debilidad facial, paresia de las cuerdas vocales, dificultades respiratorias y deformidades esqueléticas (por ejemplo, deformidades torácicas, manos en garra, pie equinovaro)."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4B1","synonyms":["CMT4B1"],"definition":"La malattia di Charcot-Marie-Tooth tipo 4B1 (CMT4B1) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4; è caratterizzata da neuropatia sensitivo-motoria demielinizzante grave ad esordio nella prima infanzia, associata ad ispessimento variabile della mielina sulle biopsie dei nervi periferici, velocità di conduzione dei nervi molto lenta o spesso addirittura non rilevabile e tipico quadro clinico della malattia di Charcot-Marie-Tooth (debolezza e atrofia dei muscoli distali, perdita sensoriale e, spesso, piede cavo). Possono associarsi ipotonia facciale, paralisi delle corde vocali, difficoltà respiratorie e deformità scheletriche (del torace, dita ad artiglio, equinismo)."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4B1","synonyms":["CMT4B1"],"definition":"Ziekte van Charcot-Marie-Tooth type 4B1 (CMT4B1) is een subtype van ziekte van Charcot-Marie-Tooth type 4 dat gekarakteriseerd wordt door aanvang in de vroege kindertijd van ernstige, demyeliniserende sensomotorische neuropathie met verscheidene gradaties van complexe vouwingen van myeline waargenomen bij biopsie van perifere zenuwen, zeer trage en vaak niet te detecteren zenuwgeleidingssnelheden, en het typische CMT-fenotype (i.e. distale spierzwakte en -atrofie, zintuigelijk verlies, frequente pes cavus (holvoet)). Overige gerapporteerde kenmerken zijn onder meer faciale zwakte, stembandverlamming, ademhalingsproblemen, en skeletmisvormingen (e.g. misvormingen van de borst, klauwhanden, pes equinovarus (klompvoet))."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4B1","definition":"A doença de Charcot-Marie-Tooth, tipo 4B1 (CMT4B1) é uma polineuropatia periférica sensitivomotora desmielinizante grave de apresentação precoce."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4B1","synonyms":["CMT4B1"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4B1","synonyms":["CMT4B1","Charcot-Marie-Toothova nemoc, typ 4B1"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4B1","synonyms":["CMT4B1"],"definition":"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)."},"zh":{"name":"腓骨肌萎缩症4B1型","synonyms":["CMT4B1"],"definition":"Charcot-Marie-Tooth病4B1(CMT4B1)是Charcot-Marie-Tooth病4型的一个亚型，其特征是幼年起病，出现严重的脱髓鞘感觉运动性神经病，周围神经活检可见不同程度的复杂髓鞘外露，神经传导速度非常慢且通常无法检测到，并具有典型的CMT表型(即远端肌肉无力和萎缩、感觉丧失和多发弓形足)。其他报道的特征包括面部无力、声带麻痹、呼吸困难和骨骼畸形(例如胸部畸形、爪手、马蹄内翻足)。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4B1","synonyms":["CMT4B1"]}},"xrefs":[{"source":"OMIM","code":"601382","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":"776238355"},{"source":"MONDO","code":"0011066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832399","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":"MTMR2","name":"myotubularin related protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301641[PMID]","hgnc":"7450","ensembl":"ENSG00000087053","omim":"603557","loci":["11q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"20301641[PMID]_DOI: 10.1016/j.nmd.2015.06.356[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301641[PMID]_DOI: 10.1016/j.nmd.2015.06.356[OTHER]"}],"phenotypes":null}