{"orpha":329478,"name":"Adult-onset distal myopathy due to VCP mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329478/","orphanet_url":"https://www.orpha.net/en/disease/detail/329478","names":{"fr":{"name":"Myopathie distale de l'adulte due à des mutations de VCP","definition":"Une myopathie génétique distale rare caractérisée par une faiblesse musculaire des membres inférieurs distaux survenant vers la cinquantaine, et une atrophie du compartiment antérieur du membre, conduisant à un pied tombant, sans faiblesse des muscles squelettiques proximaux ou scapulaires. Une démence rapidement progressive a été rapportée, ainsi qu'une maladie osseuse de Paget et une faiblesse affectant les mains. La biopsie musculaire révèle des changements myopathiques prononcés associés à des vacuoles bordées."},"de":{"name":"Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter"},"es":{"name":"Miopatía distal del adulto por una mutación en el gen VCP","definition":"Es una miopatía distal genética y poco frecuente caracterizada por un inicio en la edad adulta de debilidad de la musculatura distal de las piernas y atrofia del compartimento anterior que produce pie caído, sin debilidad muscular esquelética proximal o escapular. Se ha descrito casos de demencia rápidamente progresiva, enfermedad ósea de Paget y debilidad en las manos. La biopsia muscular muestra cambios miopáticos pronunciados con vacuolas festoneadas."},"it":{"name":"Miopatia distale da mutazione di VCP a esordio nell'età adulta","definition":"La miopatia distale da mutazione di VCP ad esordio nell'età adulta è una miopatia distale genetica rara, che esordisce durante la mezza età con debolezza dei muscoli della porzione distale delle gambe, atrofia dei muscoli della porzione anteriore che causano piedi cadenti, in assenza di debolezza dei muscoli scheletrici prossimali o scapolari. Sono stati descritti pazienti con demenza a progressione rapida, malattia ossea di Paget e debolezza delle mani. La biopsia dei muscoli evidenzia alterazioni miopatiche marcate con vacuoli cerchiati."},"nl":{"name":"Distale myopathie door VCP-mutatie met aanvang op volwassen leeftijd","definition":"Een zeldzame, genetische, distale myopathie, gekarakteriseerd door aanvang op middelbare leeftijd van zwakte en atrofie van distale beenspieren in het voorste compartiment, met als resultaat klapvoet, zonder zwakte van proximale of scapulaire skeletspieren. Snel progressieve dementie, botziekte van Paget en zwakte van hand werden reeds gerapporteerd. Analyse van spierbiopten toont uitgesproken myopathische veranderingen met omrande vacuolen."},"pt":{"name":"Miopatia distal por mutação VCP com início no adulto"},"pl":{"name":"Miopatia dystalna dorosłych wskutek mutacji VCP","definition":"*Miopatia dystalna dorosłych wskutek mutacji VCP jest rzadką, genetycznie uwarunkowaną miopatią dystalną, która charakteryzuje się osłabieniem dystalnych mięśni nóg, który występuje w średnim wieku, opadaniem stóp w wyniku zaniku mięśni przedniego przedziału łydki, bez osłabienia mięśni proksymalnych lub barkowych. Opisywano szybko postępujące otępienie, chorobę kości Pageta i osłabienie rąk. W biopsji mięśniowej widoczne są wyraźne zmiany miopatyczne z wakuolami z obwódką (ang. rimmed vacuoles)."},"cs":{"name":"Adultní distální myopatie způsobená mutací VCP"},"uk":{"name":"Дистальна міопатія у дорослих, зумовлена мутацією VCP","definition":"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles."},"zh":{"name":"VCP基因突变致成人发病型远端型肌营养不良症","definition":"一种罕见的遗传性远端肌病，其特征是中年起病的远端腿部肌肉无力，前室萎缩导致足部下垂，无近端或肩胛骨肌无力。快速进展性痴呆，骨 Paget病和手部无力也有报道。肌肉活检显示明显的肌病性改变和边缘空泡。"},"tr":{"name":"VCP mutasyonuna bağlı yetişkin başlangıçlı distal miyopati"}},"xrefs":[{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","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":"21684747[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"21684747[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"21684747[PMID]_22040362[PMID]_26105173[PMID]_26574898[PMID]","terms":[{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001437","label":"Abnormality of the musculature of the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008978","label":"Necrotizing myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Excluded (0%)","criteria":null}]}}