{"orpha":139515,"name":"Charcot-Marie-Tooth disease type 4J","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4J"],"definition":"A form of Charcot-Marie-Tooth disease type&nbsp;4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, demyelinating with axonal loss sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139515/","orphanet_url":"https://www.orpha.net/en/disease/detail/139515","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4J","synonyms":["CMT4J"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par la survenue entre l'enfance et l'âge adulte d'une neuropathie sensitivo-motrice axonale démyélinisante, rapidement progressive et de sévérité variable, se manifestant généralement par un retard de développement moteur, une faiblesse et une atrophie musculaires asymétriques, proximales et distales touchant les extrémités supérieures et inférieures, un déficit moteur sévère et une légère atteinte sensorielle, ainsi qu'une aréflexie. Le ralentissement des vitesses de conduction nerveuse va de léger à sévère."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4J","synonyms":["CMT4J"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch eine im Kindes- bis Erwachsenenalter auftretende, unterschiedlich schwere, schnell progrediente, axonale und demyelinisierende sensomotorische Neuropathie gekennzeichnet ist, die sich typischerweise durch eine verzögerte motorische Entwicklung, proximale und distale asymmetrische Muskelschwäche und Atrophie der unteren und oberen Extremitäten, schwere motorische Funktionsstörungen mit leicht reduzierter sensorischer Beeinträchtigung und Areflexie manifestiert. Die Nervenleitgeschwindigkeiten können sehr leicht bis stark reduziert sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4J","synonyms":["CMT4J"],"definition":"La enfermedad de Charcot-Marie-Tooth tipo 4J es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizada por el inicio en la infancia o edad adulta de neuropatía sensitivo-motora variable, axonal y desmielinizante, rápidamente progresiva, que se manifiesta típicamente con retraso del desarrollo motor, debilidad y atrofia muscular proximal y distal de las extremidades inferiores y superiores, disfunción motora grave con insuficiencia sensorial levemente reducida y arreflexia. La disminución de las velocidades de conducción nerviosa oscila desde muy leve a grave."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4J","synonyms":["CMT4J"],"definition":"La malattia di Charcot-Marie-Tooth tipo 4J è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4 ad esordio variabile tra l'infanzia e l'età adulta. La malattia è caratterizzata da neuropatia sensitivo-motoria demielinizzante assonale grave a progressione rapida, che di solito esordisce con ritardo dello sviluppo motorio, debolezza e atrofia asimmetrica dei muscoli prossimali e distali, atrofia delle estremità superiori e inferiori, grave disfunzione motoria, lieve deficit sensoriale e areflessia. La velocità di conduzione dei nervi è ridotta in maniera variabile, da lieve a grave."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4J","synonyms":["CMT4J"],"definition":"Ziekte van Charcot-Marie-Tooth type 4J is een subtype van ziekte van Charcot-Marie-Tooth type 4 en wordt gekarakteriseerd door aanvang in de kindertijd tot de volwassenheid van snel progressieve, axonale en demyeliniserende sensomotorische neuropathie met variabele ernst die zich doorgaans manifesteert met vertraagde motorische ontwikkeling, proximale en distale asymmetrische spierzwakte en -atrofie van de onderste en bovenste ledematen, ernstige motorische dysfunctie met mild gereduceerde sensorische functie, en areflexie. Zenuwgeleidingssnelheden zijn zeer mild tot sterk gereduceerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4J","definition":"A doença de Charcot-Marie-Tooth tipo 4J (CMT4J) pertence ao grupo geneticamente heterogéneo das polineuropatias sensitivomotoras periféricas de CMT."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4J","synonyms":["CMT4J"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4J","synonyms":["CMT4J","Charcot-Marie-Toothova nemoc, typ 4J"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4J","synonyms":["CMT4J"],"definition":"Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced."},"zh":{"name":"Charcot-Marie-Tooth病4J型","synonyms":["CMT4J"],"definition":"夏科-马里-图斯病4J型是夏科-马里-图斯病4型的亚型，其特征是从儿童到成人期出现不同严重程度、快速进行性、轴索性和脱髓鞘性感觉运动神经病变，通常表现为运动发育延迟、近端远端不对称肌无力和上下肢萎缩，严重运动功能障碍伴轻度的感觉障碍和反射消失。神经传导速度从极轻微到严重降低不等。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4J","synonyms":["CMT4J"]}},"xrefs":[{"source":"OMIM","code":"611228","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":"905681283"},{"source":"MONDO","code":"0012640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970011","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":"FIG4","name":"FIG4 phosphoinositide 5-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24228289[PMID]_20301641[PMID]","hgnc":"16873","ensembl":"ENSG00000112367","omim":"609390","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"21705420[PMID]_23489662[PMID]_24878229[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21705420[PMID]_23489662[PMID]_24878229[PMID]"}],"phenotypes":null}