{"orpha":93114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDIE","Charcot-Marie-Tooth disease-nephropathy syndrome"],"definition":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93114/","orphanet_url":"https://www.orpha.net/en/disease/detail/93114","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante E","synonyms":["CMTDIE","Syndrome de maladie de Charcot-Marie-Tooth-néphropathie"],"definition":"Une neuropathie motrice et sensorielle héréditaire rare, caractérisée par le phénotype classique de la maladie de Charcot-Marie-Tooth (faiblesse et atrophie musculaires distales lentement progressives affectant les membres supérieurs et inférieurs, perte sensorielle distale au niveau des extrémités, réflexes tendineux profonds réduits ou absents, déformation des pieds), associé à une glomérulosclérose segmentaire focale (se manifestant par une protéinurie et progressant vers une insuffisance rénale chronique). Une surdité neurosensorielle légère à modérée peut aussi être associée. La biopsie nerveuse révèle des changements axonaux et de démyélinisation. Les vitesses de conduction nerveuse varient entre la démyélinisation et les changements axonaux (habituellement entre 25-50 m/sec)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ E","synonyms":["CMTDIE","Charcot-Marie-Tooth-Krankheit mit Nephropathie"],"definition":"Eine seltene hereditäre motorische und sensorische Neuropathie, die durch den typischen CMT-Phänotyp (langsam fortschreitende distale Muskelschwäche und Atrophie in den oberen und unteren Extremitäten, distaler Sensibilitätsverlust in den Extremitäten, verminderte oder fehlende tiefe Sehnenreflexe und Fußfehlbildungen) in Verbindung mit fokaler segmentaler Glomerulosklerose (die sich durch Proteinurie und Fortschreiten bis zur terminalen Niereninsuffizienz manifestiert) gekennzeichnet ist. Eine leichte bis mittelschwere sensorineurale Schwerhörigkeit kann ebenfalls auftreten. Die Nervenbiopsie zeigt sowohl axonale als auch demyelinisierende Veränderungen, und die Nervenleitgeschwindigkeiten variieren vom demyelinisierenden bis zum axonalen Bereich (typischerweise zwischen 25 und 50 m/s)."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo E","synonyms":["CMTDIE","Enfermedad de Charcot-Marie-Tooth-nefropatía"],"definition":"Es un trastorno neuropático sensitivo-motor, hereditario y poco frecuente, caracterizado por el fenotipo típico de CMT (debilidad muscular distal lentamente progresiva y atrofia de miembros superiores e inferiores, pérdida distal de sensibilidad en extremidades, reflejos tendinosos profundos ausentes o reducidos, y malformaciones en el pie) asociado a glomeruloesclerosis focal segmentaria (que se manifiesta con proteinuria y progresión a enfermedad renal terminal). También se puede asociar pérdida auditiva neurosensorial leve o moderada. La biopsia nerviosa revela cambios tanto axonales como desmielinizantes, y las velocidades de conducción nerviosa varían desde el rango desmielinizante hasta el axonal (por lo general entre 25 y 50 m/s)."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo E","synonyms":["CMTDIE","Malattia di Charcot-Marie-Tooth - nefropatia"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo E è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata dal quadro clinico tipico della CMT (debolezza ed atrofia a progressione lenta dei muscoli distali degli arti, perdita sensoriale distale negli arti, riduzione/assenza dei riflessi tendinei profondi e deformità dei piedi), associato a glomerulosclerosi segmentale focale (che esordisce con proteinuria ed evolve nella malattia renale terminale). Può associarsi a sordità neurosensoriale lieve-moderata. La biopsia dei nervi evidenzia alterazioni assonali e demielinizzanti; la velocità di conduzione dei nervi varia tra quella delle patologie demielinizzanti e quella delle patologie assonali (di solito tra 25 e 50m/sec.)"},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type E","synonyms":["CMTDIE","Ziekte van Charcot-Marie-Tooth - nefropathie-syndroom"],"definition":"Een zeldzame, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door het typische fenotype van CMT (traag progressieve distale spierzwakte en -atrofie in bovenste en onderste ledematen, distaal zintuiglijk verlies in ledematen, verminderde of afwezige diepe peesreflexen, en voetmisvormingen), geassocieerd met focale segmentale glomerulosclerose (die zich manifesteert met proteïnurie en progressie naar terminaal nierfalen). Mild of matig sensorineuraal gehoorverlies kan ook geassocieerd zijn. Zenuwbiopsie toont zowel axonale als demyeliniserende veranderingen, en zenuwgeleidingssnelheden variëren van het demyeliniserende tot het axonale bereik (doorgaans tussen 25-50m/sec)."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo E","synonyms":["Doença de Charcot-Marie-Tooth-nefropatia"]},"pl":{"name":"Polineuropatia Charcot, Marie i Tooth typu E o dziedziczeniu autosomalnym dominującym","synonyms":["Choroba Charcota, Mariego i Tootha - nefropatia","CMTDIE"],"definition":"*Polineuropatia Charcot, Marie i Tooth typu E o dziedziczeniu autosomalnym dominującym jest rzadką dziedziczną neuropatią czuciowo-ruchową, która charakteryzuje się typowym fenotypem CMT (powoli postępujące osłabienie i zanik mięśni dystalnych w kończynach górnych i dolnych, utrata czucia w dystalnych odcinkach kończyn, osłabione lub nieobecne odruchy ścięgniste i deformacje stóp), której towarzyszy ogniskowe segmentowe stwardnienie kłębuszków nerkowych (objawiające się białkomoczem i postępujące do schyłkowej niewydolności nerek). Może również wystąpić łagodny lub umiarkowany niedosłuch nerwowo-zmysłowy. W biopsji nerwu widoczne są zmiany aksonalne i demielinizacyjne, zaś prędkości przewodzenia impulsów nerwowych mieszczą się w zakresach charakterystycznych dla zmian aksonalno-demielinizacyjnych (wynoszą typowo 25-50m/s).inf brsup inf brsup"},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ E","synonyms":["CMTDIE","Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc a nefropatii","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ E","Syndrom zahrnující Charcot-Marie-Toothovu nemoc a nefropatii"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип E","synonyms":["Синдром нефропатії Шарко-Марі-Тута","CMTDIE"],"definition":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec)."},"zh":{"name":"常染色体显性腓骨肌萎缩症E型","synonyms":["腓骨肌萎缩症-肾病综合征"],"definition":"一种罕见的遗传性运动和感觉神经疾病，其特征在于典型的CMT表型（缓慢进展的上下肢远端肌肉无力和萎缩，四肢远端感觉丧失，深部肌腱反射减弱或缺失和足部畸形），与局灶性节段性肾小球硬化（表现为蛋白尿，并进展为终末期肾病）相关。轻度或中度感音神经性听力损失也可能相关。神经活检显示轴突和脱髓鞘的变化，从脱髓鞘区域到轴突区域的神经传导速度多变（通常在25-50米/秒之间）。"},"tr":{"name":"Otozomal dominant orta düzey Charcot-Marie-Tooth hastalığı tip E","synonyms":["CMTDIE","Charcot-Marie-Tooth hastalığı-nefropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"614455","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","classifications":[156,181]},{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"INF2","name":"inverted formin, FH2 and WH2 domain containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22187985[PMID]","hgnc":"23791","ensembl":"ENSG00000203485","omim":"610982","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"22187985[PMID]_24174593[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}