{"orpha":603,"name":"Distal myopathy, Welander type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["WDM"],"definition":"A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-603/","orphanet_url":"https://www.orpha.net/en/disease/detail/603","names":{"fr":{"name":"Myopathie distale type Welander","synonyms":["WDM"],"definition":"Myopathie distale rare caractérisée par une faiblesse dans les extrémités supérieures distales, généralement les extenseurs des doigts et du poignet, qui progresse ensuite vers tous les muscles de la main et de la partie distale des membres inférieurs, principalement vers les extenseurs des orteils et de la cheville."},"de":{"name":"Myopathie, distale, Typ Welander","synonyms":["WDM"],"definition":"Eine seltene distale Myopathie, die durch eine Schwäche der distalen oberen Extremitäten gekennzeichnet ist, in der Regel der Finger- und Handgelenkstrecker, die sich später auf alle Handmuskeln und die distalen unteren Extremitäten ausdehnt, vor allem auf die Zehen- und Knöchelstrecker."},"es":{"name":"Miopatía distal tipo Welander","synonyms":["WDM"],"definition":"Es una miopatía distal caracterizada por debilidad distal en las extremidades superiores, por lo general en los extensores de los dedos de la mano y la muñeca. Posteriormente, la debilidad progresa a todos los músculos de las manos y de las extremidades inferiores distales, principalmente a los extensores del tobillo y de los dedos de los pies."},"it":{"name":"Miopatia distale tipo Welander","synonyms":["WDM"],"definition":"La miopatia distale tipo Welander (WDM) è una miopatia distale rara caratterizzata da debolezza della porzione distale degli arti superiori, di solito degli estensori delle dita e del polso, che successivamente progredisce fino a interessare tutti i muscoli delle mani e la porzione distale degli arti inferiori, in particolare gli estensori delle dita dei piedi e delle caviglie."},"nl":{"name":"Distale myopathie, Welander-type","synonyms":["WDM"],"definition":"Een zeldzame, distale myopathie, gekarakteriseerd door zwakte in de distale bovenste ledematen, meestal in strekspieren van vingers en polsen, die later evolueert naar alle handspieren en distale onderste ledematen, voornamelijk strekspieren van tenen en enkels."},"pt":{"name":"Miopatia distal de Welander"},"pl":{"name":"Miopatia dystalna, typ Welandera","synonyms":["WDM"]},"cs":{"name":"Distální myopatie, Welanderové typ","synonyms":["WDM"]},"uk":{"name":"Дистальна міопатія, тип Веландера","synonyms":["WDM"],"definition":"A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors."},"zh":{"name":"Welander远端型肌营养不良症","synonyms":["WDM"]},"tr":{"name":"Distal miyopati, Welander tipi","synonyms":["WDM"]}},"xrefs":[{"source":"OMIM","code":"604454","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1107278535"},{"source":"MONDO","code":"0011466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221054","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5552","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078052","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":"TIA1","name":"TIA1 cytotoxic granule associated RNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23348830[PMID]_23401021[PMID]","hgnc":"11802","ensembl":"ENSG00000116001","omim":"603518","loci":["2p13.3"]},{"symbol":"SQSTM1","name":"sequestosome 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"29457785[PMID]","hgnc":"11280","ensembl":"ENSG00000161011","omim":"601530","loci":["5q35.3"]},{"symbol":"TIA1","name":"TIA1 cytotoxic granule associated RNA binding protein","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"29457785[PMID]","hgnc":"11802","ensembl":"ENSG00000116001","omim":"603518","loci":["2p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Sweden","status":"Validated","source":"DOI:https://doi.org/10.1016/S0960-8966(02)00116-5[OTHER]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-10","source":"10482271[PMID]_23401021[PMID]_23348830[PMID]","terms":[{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null}]}}