{"orpha":100044,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMTDIB"],"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 mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100044/","orphanet_url":"https://www.orpha.net/en/disease/detail/100044","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante B","synonyms":["CMTDIB"],"definition":"Neuropathie sensitivo-motrice héréditaire rare, caractérisée par des vitesses de conduction intermédiaires des nerfs moteurs moyens (généralement entre 25 et 45 m/s) et des signes de démyélinisation et de dégénérescence axonale sur les biopsies nerveuses. La maladie se manifeste par les signes cliniques caractéristiques de la maladie de Charcot-Marie-Tooth, qui sont légers à modérément sévères et évoluent lentement (faiblesse musculaire et atrophie de la partie distale des membres, perte sensorielle distale, réduction ou absence des réflexes tendineux profonds et déformations des pieds). Les autres signes cliniques sont une neutropénie asymptomatique et une cataracte précoce."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ B","synonyms":["CMTDIB"],"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 leichten bis mittelschweren, langsam fortschreitenden üblichen klinischen Merkmalen der Charcot-Marie-Tooth-Krankheit (Muskelschwäche und Atrophie der distalen Extremitäten, distaler sensorischer Verlust, reduzierte oder fehlende tiefe Sehnenreflexe und Fußdeformitäten). Weitere Befunde sind asymptomatische Neutropenie und früh einsetzender Katarakt."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo B","synonyms":["CMTDIB"],"definition":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por velocidades de conducción del nervio mediano intermedias (generalmente entre 25 y 45 m/s) y signos de desmielinización y degeneración axonal en biopsias de nervio. Presenta los hallazgos clínicos habituales de la enfermedad de Charcot-Marie-Tooth, de leves a moderadamente graves y lentamente progresivos (debilidad muscular y atrofia distal de las extremidades, déficit sensitivo distal, reflejos osteotendinosos reducidos o ausentes y deformidades de los pies). Otros hallazgos incluyen neutropenia asintomática y cataratas de inicio temprano."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo B","synonyms":["CMTDIB"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo B 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 sulle biopsie dei nervi. La malattia esordisce con i segni clinici caratteristici della malattia di Charcot-Marie-Tooth, lievi o moderatamente gravi e a progressione lenta (debolezza muscolare e atrofia della porzione distale degli arti, perdita sensoriale distale, riduzione o assenza dei riflessi tendinei profondi e deformità dei piedi). Altri segni clinici sono la neutropenia asintomatica e la cataratta ad esordio precoce."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type B","synonyms":["CMTDIB"],"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 mild tot 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, en voetmisvormingen). Andere bevindingen zijn onder meer asymptomatische neutropenie en vroeg aanvangende cataracten."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo B"},"pl":{"name":"Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha typu B","synonyms":["CMTDIB"],"definition":"*Autosomalna dominująca pośrednia choroba Charcota-Marie-Tootha typu B jest rzadką dziedziczną neuropatią ruchowo-czuciową, która charakteryzuje się pośrednimi prędkościami przewodnictwa we włóknach ruchowych nerwu pośrodkowego (zwykle pomiędzy 25 a 45 m/s) oraz zwyrodnieniem demielinizacyjno-aksonalnym w biopsji nerwów. W obrazie klinicznym dominują łagodne lub umiarkowanie nasilone, wolno postępujące, typowe objawy choroby Charcota, Mariego i Tootha (osłabienie i zanik mięśni oraz utrata czucia w dystalnych odcinkach kończyn, osłabienie lub brak głębokich odruchów ścięgnistych oraz deformacje stóp). Może wystąpić bezobjawowa neutropenia i zaćma o wczesnym początku."},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ B","synonyms":["CMTDIB","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ B"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип В","synonyms":["CMTDIB"],"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 mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."},"zh":{"name":"常染色体显性遗传中间型夏科-马里-图斯病B型","synonyms":["CMTDIB"],"definition":"B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。表现为轻度至中度、缓慢进展的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，以及足部畸形)。其他发现包括无症状的中性粒细胞减少症和早发性白内障。"},"tr":{"name":"Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip B","synonyms":["CMTDIB"]}},"xrefs":[{"source":"OMIM","code":"606482","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":"1750464584"},{"source":"MONDO","code":"0011674","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564703","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847902","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":"DNM2","name":"dynamin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15731758[PMID]_20614582[PMID]","hgnc":"2974","ensembl":"ENSG00000079805","omim":"602378","loci":["19p13.2"]}],"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_19502294[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"19502294[PMID]"}],"phenotypes":null}