{"orpha":363981,"name":"Charcot-Marie-Tooth disease type 4B3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4B3","Charcot-Marie-Tooth disease with focally folded myelin"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood onset of slowly progressing, demyelinating or axonal sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38&nbsp;m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and absence of deep tendon reflexes). In some patients microcephaly, intellectual disability, and multiple cranial neuropathies have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363981/","orphanet_url":"https://www.orpha.net/en/disease/detail/363981","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4B3","synonyms":["Maladie de Charcot-Marie-Tooth avec repli localisé de la myéline"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par l'apparition dès l'enfance d'une neuropathie sensitivo-motrice progressant lentement, de type démyélinisant ou axonal, par un repli focal des gaines de myéline à la biopsie nerveuse, un ralentissement de la vitesse de conduction nerveuse (inférieure à 38&nbsp;m/s) et par le phénotype typique de la CMT (à savoir une faiblesse et une atrophie musculaires distales, une perte sensorielle et l'absence de réflexes tendineux profonds). Chez certains patients, une microcéphalie, une déficience intellectuelle et des neuropathies crâniennes multiples ont été décrites."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4B3","synonyms":["CMT4B3","Charcot-Marie-Tooth-Krankheit mit fokal gefaltetem Myelin"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch eine im Kindesalter beginnende, langsam fortschreitende, demyelinisierende sensomotorische Neuropathie, fokal gefaltete Myelinscheiden in der Nervenbiopsie, reduzierte Nervenleitgeschwindigkeiten (weniger als 38 m/s) und den typischen CMT-Phänotyp (d. h. distale Muskelschwäche und -atrophie sowie sensorischer Verlust) gekennzeichnet ist."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4B3","synonyms":["CMT4B3","Enfermedad de Charcot-Marie-Tooth con focos de mielina plegada"],"definition":"La enfermedad de Charcot-Marie-Tooth tipo 4B3 (CMT4B3) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por una neuropatía sensitivo-motora desmielinizante lentamente progresiva de inicio en la infancia, plegamiento focal de las vainas de mielina en biopsias de nervio, velocidades de conducción nerviosa reducida (menos de 38 m/s) y fenotipo típico de CMT (es decir, debilidad y atrofia muscular distal, y pérdida sensorial)."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4B3","synonyms":["CMT4B3","Malattia di Charcot-Marie-Tooth con ripiegamento focale della mielina"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4B3 (CMT4B3) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata da neuropatia sensitivo-motoria demielinizzante ad esordio infantile e progressione lenta, presenza di pieghe irregolari sulle guaine mieliniche, evidenti sulle biopsie dei nervi e velocità di conduzione nervosa ridotta (inferiore a 38m/s), associate al quadro clinico caratteristico della CMT (debolezza e atrofia dei muscoli distali e perdita sensoriale)."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4B3","synonyms":["CMT4B3","Ziekte van Charcot-Marie-Tooth met focaal gevouwen myeline"],"definition":"Ziekte van Charcot-Marie-Tooth 4B3 (CMT4B3) is een subtype van Charcot-Marie-Tooth type 4 dat wordt gekarakteriseerd door een traag progressieve, demyeliniserende sensorimotorische neuropathie met aanvang in de kindertijd, focaal gevouwen myelineschedes in zenuwbiopten, verminderde zenuwgeleidingssnelheden (minder dan 38 m/s), en het typische CMT-fenotype (i.e. distale spierzwakheid en -atrofie, en zintuigelijk verlies)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4B3"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4B3","synonyms":["Choroba Charcota, Mariego i Tootha z ogniskowym pofałdowaniem mieliny","CMT4B3"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4B3","synonyms":["CMT4B3","Charcotova-Marieova-Toothova nemoc s fokálně poskládaným myelinem","Charcot-Marie-Toothova nemoc, typ 4B3","Charcot-Marie-Toothova nemoc s fokálně poskládaným myelinem"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4B3","synonyms":["Хвороба Шарко-Марі-Тута з фокальною складчастістю мієліну","CMT4B3"],"definition":"Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."},"zh":{"name":"夏科-马里-图斯病4B3型","synonyms":["夏科-马里-图斯病伴局灶髓鞘折叠障碍"],"definition":"夏科-马里-图斯病4B3型（CMT4B3）是夏科-马里-图斯病4型的亚型，其特征是儿童期始缓慢进展，脱髓鞘性感觉运动神经病，神经活检中髓鞘局部折叠，神经传导速度降低（低于38 m / s）和典型的CMT表型（即远端肌无力和萎缩及感觉丧失）。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tipi 4B3","synonyms":["CMT4B3","Fokal katlanmış miyeline bağlı Charcot-Marie-Tooth hastalığı"]}},"xrefs":[{"source":"OMIM","code":"615284","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014117","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3695063","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":"SBF1","name":"SET binding factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23749797[PMID]","hgnc":"10542","ensembl":"ENSG00000100241","omim":"603560","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23749797[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}