{"orpha":100043,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDIA"],"definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100043/","orphanet_url":"https://www.orpha.net/en/disease/detail/100043","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante A","synonyms":["CMTDIA"],"definition":"Neuropathie motrice et sensorielle héréditaire rare, caractérisée par des vitesses de conduction intermédiaires (généralement entre 25 et 45 m/s) du nerf médian moteur et des signes de démyélinisation et de dégénérescence axonale mis en évidence par biopsies nerveuses. Elle se manifeste par les signes cliniques clasiques de la maladie de Charcot-Marie-Tooth (faiblesse musculaire progressive et atrophie des extrémités distales, perte sensorielle distale, réflexes tendineux profonds réduits ou absents et déformations des pieds) survenant dans la première ou la deuxième décennie de vie, progressant de manière soutenue jusqu'à la quatrième décennie, à partir de laquelle la maladie s'aggrave de manière accélérée avant de se stabiliser."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ A","synonyms":["CMTDIA"],"definition":"Eine seltene hereditäre motorische und sensorische Neuropathie, die durch intermediäre motorische Leitgeschwindigkeiten des Medianusnervs (normalerweise zwischen 25 und 45 m/s) und Anzeichen von sowohl Demyelinisierung als auch axonaler Degeneration in Nervenbiopsien gekennzeichnet ist. Sie präsentiert sich mit den üblichen klinischen Merkmalen der Charcot-Marie-Tooth-Krankheit (fortschreitende Muskelschwäche und Atrophie der distalen Extremitäten, distaler sensorischer Verlust, reduzierte oder fehlende tiefe Sehnenreflexe und Fußdeformitäten). Das Fortschreiten der Neuropathie zeigt in der ersten bis zweiten Lebensdekade eine stetige Progression, bis zur vierten Dekade eine schwere Progression und stabilisiert sich anschließend."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo A","synonyms":["CMTDIA"],"definition":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por velocidades de conducción nerviosa motora intermedias (generalmente entre 25 y 45 m/s) y signos tanto de desmielinización como de degeneración axonal en biopsias de nervio. Su forma de presentación es con los hallazgos clínicos habituales de la enfermedad de Charcot-Marie-Tooth (debilidad muscular progresiva y atrofia distal de extremidades, déficit sensitivo distal, reflejos tendinosos profundos reducidos o ausentes y deformidades de los pies) en la primera o segunda décadas de la vida, con progresión constante hasta la cuarta década y, posteriormente, progresión grave y estabilización."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo A","synonyms":["CMTDIA"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominate intermedia tipo A è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata da velocità di conduzione intermedie dei nervi motori medi (di solito comprese tra 25 e 45 m/s) e segni di demielinizzazione e degenerazione assonale evidenti sulle biopsie dei muscoli. La malattia esordisce con i segni clinici caratteristici della malattia di Charcot-Marie-Tooth (debolezza ed atrofia muscolare progressiva della porzione distale degli arti, perdita sensoriale distale, riduzione o assenza dei riflessi tendinei profondi e deformità dei piedi) nella prima o seconda decade di vita; la progressione è stabile fino alla quarta decade, mentre successivamente diventa più marcata e si stabilizza."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type A","synonyms":["CMTDIA"],"definition":"Een zeldzame, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door intermediaire motorische zenuwgeleidingssnelheden van de mediane zenuw (meestal tussen 25 en 45 m/s) en tekenen van zowel demyelinisatie als axonale degeneratie in zenuwbiopten. Het presenteert zich met typische klinische kenmerken van ziekte van Charcot-Marie-Tooth (progressieve spierzwakte en -atrofie van distale ledematen, distaal zintuiglijk verlies, verminderde of afwezige diepe peesreflexen, en voetmisvormingen) in het eerste tot tweede levensdecennium, met gestage progressie tot het vierde levensdecennium, en daarna ernstige progressie en stabilisatie."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo A"},"pl":{"name":"Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha typu A","synonyms":["CMTDIA"]},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ A","synonyms":["CMTDIA","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ A"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип А","synonyms":["CMTDIA"],"definition":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards."},"zh":{"name":"常染色体显性遗传中间型夏科-马里-图斯病A型","synonyms":["CMTDIA"],"definition":"A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，其特征是运动正中神经传导速度中等(通常在25-45m/s之间)，在神经活检中有脱髓鞘和轴突变性的迹象。在出生后的第一到第二个十年中，它呈现出Charcot-Marie-Tooth病的常见临床特征(四肢远端进行性肌肉无力和萎缩，远端感觉丧失，深肌腱反射减弱或消失，以及足部畸形)，并稳步进展到第四个十年，之后严重进展并趋于稳定。"},"tr":{"name":"Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip A","synonyms":["CMTDIA"]}},"xrefs":[{"source":"OMIM","code":"606483","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":"1515990081"},{"source":"MONDO","code":"0011675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847896","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"11533914[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11533914[PMID]"}],"phenotypes":null}