{"orpha":609,"name":"Tibial muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Finnish tibial muscular dystrophy","TMD","Udd myopathy","Distal myopathy, Udd type","Distal titinopathy"],"definition":"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-609/","orphanet_url":"https://www.orpha.net/en/disease/detail/609","names":{"fr":{"name":"Dystrophie musculaire tibiale","synonyms":["DMT","Myopathie d'Udd","Myopathie distale type Udd","TMD","Titinopathie distale"],"definition":"La dystrophie musculaire tibiale (DMT) est une myopathie distale caractérisée par une faiblesse musculaire des compartiments antérieurs des membres inférieurs, apparaissant entre la quatrième et la septième décennie."},"de":{"name":"Muskeldystrophie, tibiale","synonyms":["Distale Myopathie nach Udd","Distale Titinopathie","Finnische tibiale Muskeldystrophie","TMD","Udd-Myopathie"]},"es":{"name":"Distrofia muscular tibial","synonyms":["Distrofia muscular tibial finlandesa","Miopatía de Udd","Miopatía distal tipo Udd","TMD","Titinopatía distal"],"definition":"La distrofia muscular tibial (DMT) es una miopatía distal caracterizada por debilidad de los músculos de la cara anterior de las extremidades inferiores, que aparece entre la cuarta y séptima década de vida."},"it":{"name":"Distrofia muscolare della tibia","synonyms":["Distrofia muscolare tibiale finlandese","Miopatia di Udd","Miopatia distale, tipo Udd","TMD","Titinopatia distale"],"definition":"La distrofia muscolare della tibia (TMD) è una miopatia distale caratterizzata da debolezza dei muscoli del compartimento anteriore degli arti inferiori, ad esordio nella quarta-settima decade di vita."},"nl":{"name":"Tibiale spierdystrofie","synonyms":["Distale myopathie, Udd-type","Distale titinopathie","Finse tibiale spierdystrofie","Myopathie, Udd-type","TMD"],"definition":"Tibiale spierdystrofie (TMD) is een distale myopathie die wordt gekarakteriseerd door zwakte van de spieren in de voorste delen van de onderste ledematen die verschijnt tijdens het vierde tot het zevende levensdecennium."},"pt":{"name":"Distrofia muscular tibial","synonyms":["Miopatia tibial de Udd"]},"pl":{"name":"Piszczelowa dystrofia mięśniowa","synonyms":["Fińska piszczelowa dystrofia mięsniowa","Miopatia dystalna, typ Udd","Miopatia Udd","Tytynopatia dystalna","TMD"]},"cs":{"name":"Tibiální svalová dystrofie","synonyms":["Distální titinopatie","Finnishova tibiální svalová dystrofie","TMD","Uddova myopatie","Distální mopatie, Uddův typ"]},"uk":{"name":"Мязова дистрофія великогомілкової кістки","synonyms":["Дистальна міопатія, тип Udd","Дистальна титинопатія","Фінська мязова дистрофія великогомілкової кістки","TMD","Міопатія Удд"],"definition":"Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life."},"zh":{"name":"胫骨肌营养不良症","synonyms":["芬兰型胫骨肌营养不良症"]},"tr":{"name":"Tibial kas distrofisi","synonyms":["TMD","Udd miyopati","Distal titinopati","Distal miyopati, Udd tipi","Fin tipi tibiyal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"600334","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":"651559966"},{"source":"MONDO","code":"0010870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1450052","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]},{"orpha":209053,"name":"Qualitative or quantitative defects of titin","classifications":[156]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301498[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Validated","source":"24395473[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Finland","status":"Validated","source":"24395473[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"22197426[PMID]_15728284[PMID]_9855539[PMID]_9497249[PMID]_12891679[PMID]","terms":[{"hpo":"HP:0031374","label":"Ankle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","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:0009058","label":"Increased muscle lipid content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","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:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Excluded (0%)","criteria":null}]}}