{"orpha":447964,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2V","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation","CMT2V","Hereditary adult-onset painful axonal polyneuropathy"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447964/","orphanet_url":"https://www.orpha.net/en/disease/detail/447964","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2V","synonyms":["CMT2V","Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de NAGLU","Polyneuropathie axonale héréditaire douloureuse de l'adulte"],"definition":"Neuropathie sensitivomotrice axonale héréditaire rare caractérisée par l'apparition, à l'âge adulte, de douleurs récurrentes dans les jambes, avec ou sans crampes, d'une perte progressive des réflexes tendineux profonds et du sens vibratoire, d'une paresthésie des pieds et, plus tard, des mains. Les patients présentent souvent des troubles du sommeil et une légère ataxie sensorielle."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2V","synonyms":["CMT2V","Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch NAGLU-Genmutation","Hereditäre adulte schmerzvolle axonale Polyneuropathie"],"definition":"Eine Subtyp der axonalen hereditären motorischen und sensorischen Neuropathie, der im Erwachsenenalter durch wiederkehrende Schmerzen in den Beinen mit oder ohne Krämpfe, fortschreitenden Verlust der tiefen Sehnenreflexe und des Vibrationsempfindens, Parästhesien in den Füßen und später in den Händen gekennzeichnet ist. Die Patienten leiden häufig unter Schlafstörungen und leichter sensorischer Ataxie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2V","synonyms":["Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen NAGLU","Polineuropatía axonal dolorosa hereditaria de inicio en el adulto","Polineuropatía axonal hereditaria dolorosa de inicio en el adulto"],"definition":"Es una neuropatía sensitivo-motora hereditaria y poco frecuente de inicio en el adulto caracterizada por la aparición de dolor recurrente en las piernas que puede estar acompañado o no de calambres, pérdida progresiva de los reflejos osteotendinosos y de la sensibilidad vibratoria y parestesias en los pies y posteriormente en las manos. Con frecuencia, los pacientes experimentan trastornos del sueño y leve ataxia sensitiva."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2V","synonyms":["CMT2V","Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di NAGLU","Polineuropatia assonale dolorosa ereditaria a esordio nell'età adulta"],"definition":"È una neuropatia motoria e sensoriale assonale ereditaria rara ad esordio nell'età adulta, caratterizzata da dolore ricorrente agli arti inferiori con o senza crampi, perdita progressiva dei riflessi tendinei profondi e del senso della vibrazione, parestesie a livello dei piedi e, successivamente, anche alle mani. Spesso i pazienti presentano disturbi del sonno e atassia sensoriale lieve."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2V","synonyms":["Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van NAGLU-mutatie","CMT2V","Erfelijke pijnlijke axonale polyneuropathie met volwassen aanvang"],"definition":"Een zeldzame, axonale, erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door aanvang in de volwassenheid van recurrente pijn in de benen met of zonder krampen, progressief verlies van diepe peesreflexen en vibratiezin, paresthesie in de voeten en later in de handen. Patiënten ervaren vaak slaapstoornissen en milde sensorische ataxie."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2V"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2V","synonyms":["Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją NAGLU","CMT2V","Dziedziczna bolesna polineuropatia aksonalna o początku w wieku dorosłym"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2V","synonyms":["CMT2V","Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi NAGLU","Hereditární bolestivá axonální polyneuropatie s nástupem v dospělosti","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2V","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi NAGLU"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2V","synonyms":["Аутосомно-домінантна хвороба Шарко-Марі-Тута 2 типу, зумовлена мутацією NAGLU","CMT2V","Спадкова болюча аксональна полінейропатія, що починається у дорослому віці"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia."},"zh":{"name":"常染色体显性轴索型腓骨肌萎缩症2V型","synonyms":["NAGLU突变导致的常染色体显性Charcot-Marie-Tooth病2型"],"definition":"一种罕见的轴突性遗传运动和感觉神经病，其特征是成年人发作时腿部反复疼痛（伴或不伴抽筋），深部肌腱反射和振动感的逐渐丧失，脚部感觉异常和后期出现的手部感觉异常。患者常会出现睡眠障碍和轻度的感觉性共济失调。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2V","synonyms":["CMT2V","Kalıtsal erişkin-başlangıçlı ağrılı aksonal polinöropati","NAGLU mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"616491","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014665","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NAGLU","name":"N-acetyl-alpha-glucosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25818867[PMID]","hgnc":"7632","ensembl":"ENSG00000108784","omim":"609701","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"25818867[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25818867[PMID]"}],"phenotypes":null}