{"orpha":435387,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2Y","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation","CMT2 due to VCP mutation","CMT2Y"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435387/","orphanet_url":"https://www.orpha.net/en/disease/detail/435387","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2Y","synonyms":["CMT2 due à une mutation de VCP","CMT2Y","Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de VCP"],"definition":"Neuropathie sensitivomotrice héréditaire axonale rare caractérisée par une faiblesse musculaire distale progressive et une atrophie d'apparition et de sévérité variables. Les patients présentent une instabilité posturale, des troubles de la marche et des difficultés à courir, une diminution des réflexes tendineux profonds, des déformations des pieds, des troubles de la motricité fine et une déficience sensorielle distale. Une dysarthrie, une dysphagie et de légers troubles cognitifs et du comportement ont également été rapportés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Y","synonyms":["CMT2 durch VCP-Genmutation","CMT2Y","Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch VCP-Genmutation"],"definition":"Eine axonale Form der hereditären motorischen und sensorischen Neuropathie, die durch fortschreitende distale Muskelschwäche und -atrophie mit unterschiedlichem Beginn und Schweregrad gekennzeichnet ist. Die Patienten zeigen Haltungsinstabilität, Gang- und Laufschwierigkeiten, verminderte tiefe Sehnenreflexe, Fußdeformitäten, feinmotorische Beeinträchtigungen und distale sensorische Beeinträchtigungen. Dysarthrie, Dysphagie und leichte kognitive und Verhaltensauffälligkeiten wurden ebenfalls berichtet."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2Y","synonyms":["CMT2 por una mutación en el gen VCP","CMT2Y","Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen VCP"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria y poco frecuente caracterizada por debilidad y atrofia muscular distal progresiva de inicio y gravedad variables. Los pacientes se presentan con inestabilidad postural, trastornos de la marcha y la carrera, disminución de los reflejos osteotendinosos, deformidades en el pie, afectación de las habilidades motoras finas y deterioro sensitivo distal. También se ha descrito disartria, disfagia y leves alteraciones cognitivas y de la conducta."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di VCP","synonyms":["CMT2 da mutazione di VCP"],"definition":"È una neuropatia motoria e sensoriale assonale ereditaria rara, caratterizzata da debolezza ed atrofia progressiva dei muscoli distali; l'esordio e la gravità sono variabili. I pazienti presentano instabilità posturale, difficoltà alla deambulazione e nella corsa, riduzione dei riflessi tendinei profondi, deformità dei piedi, compromissione dei movimenti fini e deficit sensoriale distale. Possono associarsi disartria, disfagia e anomalie cognitive e comportamentali lievi."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Y","synonyms":["Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door VCP-mutatie","CMT2 door VCP-mutatie","CMT2Y"],"definition":"Een zeldzame, axonale, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door progressieve zwakte en atrofie van distale spieren met een variabele aanvang en ernst. Patiënten vertonen posturale instabiliteit, moeilijkheden met stappen en lopen, verminderde diepe peesreflexen, voetmisvormingen, verstoorde fijne motoriek, en distale zintuiglijke beperkingen. Dysartrie, dysfagie, en milde cognitieve en gedragsstoornissen werden ook reeds gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2Y","synonyms":["Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutações VCP"]},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją VCP","synonyms":["CMT2 spowodowana mutacją VCP"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2Y","synonyms":["CMT2 způsobená mutací VCP","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Y"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Y","synonyms":["Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією VCP","CMT2 через мутацію VCP","CMT2Y"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported."},"zh":{"name":"常染色体显性遗传性夏科-马里-图斯病2Y型","synonyms":["VCP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性运动和感觉神经疾病，特征是进行性远端肌肉无力以及发病和严重程度不同的肌肉萎缩。患者表现为姿势不稳，步态和奔跑困难，深部肌腱反射减弱，足部畸形，精细运动障碍和远端感觉障碍。构音障碍，吞咽困难以及轻度的认知和行为异常也有报道。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2Y","synonyms":["CMT2Y","VCP mutasyonuna bağlı CMT2","VCP mutasyonu nedeniyle otozomal dominant Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"616687","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569026","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":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25125609[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"25125609[PMID]_25125609[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25125609[PMID]_25125609[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-08","source":"25878907[PMID]_25125609[PMID]","terms":[{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006944","label":"Abolished vibration sense","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006389","label":"Limited knee flexion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}