{"orpha":99939,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2E","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2E"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99939/","orphanet_url":"https://www.orpha.net/en/disease/detail/99939","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2E","synonyms":["CMT2E"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2E (CMT2E) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. La CMT2E apparaît entre la première et la sixième décennie avec une anomalie de la démarche et une faiblesse musculaire au niveau des jambes, atteignant les bras dans un deuxième temps. Les réflexes tendineux sont diminués ou absents, et après plusieurs années, tous les patients ont les pieds creux. D'autres manifestations peuvent être rencontrées incluant une surdité et un tremblement postural."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2E","synonyms":["CMT2E"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2E (CMT2E) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Die CMT2E beginnend im ersten bis sechsten Lebensjahrzehnt mit Gangstörungen und Muskelschwäche zuerst in den Beinen und später in den Armen. Die Sehnenreflexe sind abgeschwächt oder ausgelöscht. Nach Jahren haben alle Patienten einen Pes cavus. Weitere mögliche Symptome sind Schwerhörigkeit und Haltungstremor."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2E","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora de inicio entre la primera y la 6ª década de vida, con anomalías en la marcha y debilidad de las extremidades inferiores, afectando a las extremidades superiores de manera secundaria. Los reflejos tendinosos están reducidos o ausentes y, al cabo de los años, todos los pacientes presentan pie cavo. Puede haber otros signos presentes, incluyendo pérdida de audición y temblores posturales."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2E","synonyms":["CMT2E"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2E (CMT2E) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. La CMT2E esordisce nella prima-sesta decade con andatura anomala e debolezza a livello delle gambe, che raggiunge le braccia solo secondariamente. I riflessi tendinei sono ridotti o assenti e, dopo alcuni anni, tutti i pazienti presentano piedi cavi. Possono essere presenti altri segni, come la sordità e il tremore posturale."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2E","synonyms":["CMT2E"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, die aanvangt in het eerste tot zesde levensdecennium met ganganomalie en zwakte in de benen die secundair de armen treft. Peesreflexen zijn verminderd of afwezig, en na verloop van jaren hebben alle patiënten holvoet (pes cavus). Andere tekenen kunnen aanwezig zijn, waaronder gehoorverlies en posturale tremor."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2E"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2E","synonyms":["CMT2E"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2E","synonyms":["CMT2E","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2E"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Е","synonyms":["CMT2E"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2E型","synonyms":["CMT2E"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2E型是轴索性的Charcot-Marie-Tooth病一种形式，是一种外周感觉运动性神经病，于十几岁到六十几发病，步态异常，先腿部无力，后手臂无力。肌腱反射减弱或消失，几年后，所有的患者都出现弓形足。其他体征也可能出现，包括听力损失和姿势震颤。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2E","synonyms":["CMT2E"]}},"xrefs":[{"source":"OMIM","code":"607684","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1476045360"},{"source":"MONDO","code":"0011894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843225","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NEFL","name":"neurofilament light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"7739","ensembl":"ENSG00000277586","omim":"162280","loci":["8p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301366[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-11","source":"20301532[PMID]_24887401[PMID]_31574566[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007220","label":"Demyelinating motor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011402","label":"Demyelinating sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012896","label":"Abnormal motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030235","label":"Extremely elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very rare (<4-1%)","criteria":null}]}}