{"orpha":100045,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDIC"],"definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100045/","orphanet_url":"https://www.orpha.net/en/disease/detail/100045","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C","synonyms":["CMTDIC"],"definition":"Une neuropathie héréditaire motosensorielle rare, caractérisée par des vitesses intermédiaires de conduction motrice des nerfs médians (en général, entre 25 et 60 m/s). Elle se manifeste par les signes cliniques classiques, lentement progressifs, et modérément sévères de la maladie de Charcot-Marie-Tooth (faiblesse et atrophie musculaires au niveau des extrémités distales, perte sensorielle distale, réflexes tendineux profonds réduits ou absents, déformations des pieds, atrophie du muscle court extenseur des doigts). Les données des biopsies nerveuses incluent une dégénérescence axonale liée à l'âge, une diminution du nombre de fibres larges myélinisées et une remyélinisation segmentaire, sans aspect en bulbe d'oignon."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ C","synonyms":["CMTDIC"],"definition":"Eine seltene hereditäre motorische und sensorische Neuropathie, die durch intermediäre motorische Leitgeschwindigkeiten des Medianusnervs gekennzeichnet ist (normalerweise zwischen 25 und 60 m/s). Sie präsentiert sich mit mäßig schweren, langsam fortschreitenden und üblichen klinischen Merkmalen der Charcot-Marie-Tooth-Krankheit (Muskelschwäche und Atrophie der distalen Extremitäten, distaler sensorischer Verlust, reduzierte oder fehlende tiefe Sehnenreflexe, Fußdeformitäten, Atrophie des Musculus extensor digitorum brevis). Zu den Befunden in Nervenbiopsien gehören altersabhängige axonale Degeneration, reduzierte Anzahl großer myelinisierter Fasern, segmentale Remyelinisierung, keine vorliegende Zwiebelschalenformation."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo C","definition":"Es una neuropatía sensitivo-motora hereditaria y poco frecuente caracterizada por velocidades de conducción intermedias del nervio mediano (generalmente entre 25 y 60 m/s). Presenta las características clínicas habituales de la enfermedad de Charcot-Marie-Tooth, moderadamente graves y lentamente progresivas (debilidad muscular y atrofia distal de las extremidades, déficit sensitivo distal, reflejos osteotendinosos reducidos o ausentes, deformidades de los pies, atrofia del extensor digitorum brevis). Los hallazgos en las biopsias de nervio incluyen degeneración axonal edad dependiente, reducción del número de fibras gruesas mielinizadas, remielinización segmentaria y ausencia de formación de ''bulbo de cebolla''."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo C","synonyms":["CMTDIC"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo C è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata da velocità di conduzione intermedie del nervo mediano (di solito comprese tra 25 e 60 m/s). La malattia esordisce con i segni clinici caratteristici della malattia di Charcot-Marie-Tooth, moderatamente gravi e a progressione lenta (debolezza muscolare e atrofia della porzione distale delle estremità, perdita sensoriale distale, riduzione o assenza dei riflessi tendinei profondi, deformità dei piedi, atrofia dell'estensore breve delle dita). La biopsia dei nervi evidenzia una degenerazione assonale che correla con l'età, una riduzione del numero di fibre larghe demielinizzate, una rimielinizzazione segmentale e l'assenza dei ''bulbi di cipolla''."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type C","synonyms":["CMTDIC"],"definition":"Een zeldzame, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door intermediaire motorische zenuwgeleidingssnelheden van de mediane zenuw (meestal tussen 25 en 60 m/s). Het presenteert zich met matig ernstige, traag progressieve typische klinische kenmerken van ziekte van Charcot-Marie-Tooth (spierzwakte en -atrofie van distale ledematen, distaal zintuiglijk verlies, verminderde of afwezige diepe peesreflexen, voetmisvormingen, atrofie van de musculus extensor digitorum brevis (korte tenenstrekker)). Bevindingen bij analyse van zenuwbiopten zijn onder meer leeftijdsafhankelijke axonale degeneratie, verminderd aantal grote gemyeliniseerde vezels, segmentale remyelinisatie, en geen zogenaamde uienschillen."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo C"},"pl":{"name":"Autosomalna dominująca polineuropatia Charcota, Mariego i Tootha typu C","synonyms":["CMTDIC"],"definition":"*Autosomalna dominująca polineuropatia Charcota, Mariego i Tootha typu C jest rzadką dziedziczną neuropatią ruchowo-czuciową, która charakteryzuje się pośrednimi prędkościami przewodnictwa we włóknach ruchowych nerwu pośrodkowego (które zwykle wynoszą od 25 do 60 m/s). Objawy kliniczne są typowe dla umiarkowanie nasilonej, powoli postępującej postaci polineuropatii Charcota, Mariego i Tootha (osłabienie i zanik mięśni oraz utrata czucia w dystalnych odcinkach kończyn dolnych, osłabienie lub brak głębokich odruchów ścięgnistych, deformacje stóp, zanik mięśnia prostownika krótkiego palców). W biopsji nerwów obserwuje się zależną od wieku degenerację aksonów, zmniejszoną liczbę dużych włókien mielinowych, segmentalną remielinizację i brak struktur cebulowatych."},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ C","synonyms":["CMTDIC","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ C"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип С","synonyms":["CMTDIC"],"definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs."},"zh":{"name":"常染色体显性遗传中间型夏科-马里-图斯病C型","synonyms":["CMTDIC"],"definition":"C型常染色体显性显性中度Charcot-Marie-Tooth病是一种罕见的遗传性运动和感觉神经病，特征是运动正中神经传导速度中等(通常在25到60米/秒之间)。表现为中度严重、进展缓慢的Charcot-Marie-Tooth病的常见临床特征(四肢远端肌肉无力和萎缩、远端感觉丧失、深肌腱反射减弱或缺失、足部畸形、趾短伸肌萎缩)。神经活检的发现包括年龄依赖性轴突变性，大有髓纤维数量减少，节段性髓鞘再生，没有“洋葱头”改变。"},"tr":{"name":"Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip C","synonyms":["CMTDIC"]}},"xrefs":[{"source":"OMIM","code":"608323","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":"index","validated":true,"icd11_uri":"1105445073"},{"source":"MONDO","code":"0012012","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564257","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842237","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]}],"children":[],"genes":[{"symbol":"YARS1","name":"tyrosyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16429158[PMID]","hgnc":"12840","ensembl":"ENSG00000134684","omim":"603623","loci":["1p35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16429158[PMID]_24354524[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"16429158[PMID]_24354524[PMID]"}],"phenotypes":null}