{"orpha":100046,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDID"],"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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100046/","orphanet_url":"https://www.orpha.net/en/disease/detail/100046","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D","synonyms":["CMTDID"],"definition":"Neuropathie sensitivo-motrice héréditaire rare caractérisée par des vitesses de conduction intermédiaires dans le nerf médian moteur (généralement entre 25 et 45 m/s), ainsi que par des signes de dégénérescence axonale et de démyélinisation, sans aspect en « bulbe d'oignon » à la biopsie nerveuse. La maladie présente les caractéristiques cliniques habituelles de la maladie de Charcot-Marie-Tooth, de sévérité variable (faiblesse et atrophie musculaires progressives des extrémités distales, perte sensitive distale, réflexes tendineux profonds réduits ou absents et déformations des pieds). Dans certaines familles, des douleurs neuropathiques débilitantes et de légers tremblements posturaux/cinétiques des membres supérieurs sont également observés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ D","synonyms":["CMTDID"],"definition":"Eine seltene hereditäre motorische und sensorische Neuropathie, die durch intermediäre motorische Leitgeschwindigkeiten des Medianusnervs (in der Regel zwischen 25 und 45 m/s) gekennzeichnet ist. In Nervenbiopsien sind sowohl Anzeichen von axonaler Degeneration als auch Demyelinisierung ohne Zwiebelschalen-Konformation nachweisbar. Es zeigen sich die üblichen klinischen Merkmale der Charcot-Marie-Tooth-Krankheit mit unterschiedlichem Schweregrad (progressive Muskelschwäche und Atrophie der distalen Extremitäten, distaler sensorischer Verlust, reduzierte oder fehlende tiefe Sehnenreflexe und Fußdeformitäten). Andere Befunde in einigen der Familien umfassen lähmende neuropathische Schmerzen und einen leichten posturalen/kinetischen Tremor der oberen Gliedmaßen."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo D","synonyms":["CMTDID"],"definition":"Es una neuropatía hereditaria sentitivo-motora poco frecuente caracterizada por velocidades de conducción intermedias del nervio mediano (generalmente entre 25 y 45 m/s) y signos de degeneración axonal y desmielinización sin formación de \"bulbos de cebolla\" en biopsias de nervio. Presenta los hallazgos clínicos habituales de la enfermedad de Charcot-Marie-Tooth de gravedad variable (debilidad muscular progresiva y atrofia en las extremidades distales, pérdida de sensibilidad distal, reflejos osteotendinosos reducidos o ausentes, y deformidades de los pies). En algunas familias se incluyen otros hallazgos, tales como dolor neuropático debilitante y leve temblor postural / cinético en las extremidades superiores."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo D","synonyms":["CMTDID"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo D è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata da velocità di conduzione intermedie del nervo mediano (di solito comprese tra 25 e 45 m/s) e segni clinici secondari alla degenerazione e demielinizzazione assonale, in assenza dei ''bulbi di cipolla'' nelle biopsie dei nervi. La malattia esordisce con i segni clinici caratteristici della malattia di Charcot-Marie-Tooth, di gravità variabile (debolezza muscolare progressiva e atrofia della parte distale delle estremità, perdita sensoriale distale, riduzione o assenza dei riflessi tendinei profondi, deformità dei piedi). Alcuni pazienti presentano dolore neuropatico debilitante e lieve tremore posturale/cinetico degli arti superiori."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type D","synonyms":["CMTDID"],"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 axonale degeneratie als demyelinisatie zonder zogenaamde uienschillen in zenuwbiopten. Het presenteert zich met typische klinische kenmerken van ziekte van Charcot-Marie-Tooth met een variabele ernst (progressieve spierzwakte en -atrofie van distale ledematen, distaal zintuiglijk verlies, verminderde of afwezige diepe peesreflexen, en voetmisvormingen). Overige bevindingen in sommige families zijn onder meer invaliderende neuropathische pijn en milde posturale/kinetische tremor van bovenste ledematen."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo D"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu D","synonyms":["CMTDID"],"definition":"*Autosomalna dominująca choroba Charcota, Mariego i Tootha typu D jest rzadką dziedziczną neuropatią ruchowo-czuciową, która charakteryzuje się pośrednimi prędkościami przewodnictwa we włóknach ruchowych nerwu pośrodkowego (zwykle między 25 a 45 m/s) oraz objawami degeneracji aksonalno-demielinizacyjnej bez obecności struktur cebulowatych w biopsji nerwów. W obrazie klinicznym obserwuje się typowe objawy choroby Charcota, Mariego i Tootha o różnym nasileniu (postępujące osłabienie i zanik mięśni oraz utrata czucia w dystalnych odcinkach kończyn, osłabione lub nieobecne odruchy głębokie oraz deformacje stóp). W niektórych rodzinach występują dodatkowe objawy, obejmujące wyniszczający ból neuropatyczny i łagodne posturalne/kinetyczne drżenie kończyn górnych."},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ D","synonyms":["CMTDID","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ D"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип D","synonyms":["CMTDID"],"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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor."},"zh":{"name":"常染色体显性遗传中间型夏科-马里-图斯病D型","synonyms":["CMTDID"],"definition":"D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)，在神经活检中可见无洋葱头的轴突变性和脱髓鞘征象。它通常表现为不同严重程度的Charcot-Marie-Tooth病的临床特征(进行性的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，以及足部畸形)。一些家庭的其他发现包括衰弱的神经性疼痛和轻微的姿势/运动性上肢震颤。"},"tr":{"name":"Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip D","synonyms":["CMTDID"]}},"xrefs":[{"source":"OMIM","code":"607791","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":"0011909","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843075","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":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10406984[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10406984[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"10406984[PMID]"}],"phenotypes":null}