{"orpha":488650,"name":"Distal myopathy, Tateyama type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488650/","orphanet_url":"https://www.orpha.net/en/disease/detail/488650","names":{"fr":{"name":"Myopathie distale type Tateyama","definition":"Myopathie distale rare, génétique, lentement progressive, caractérisée par une atrophie et une faiblesse musculaires limitées aux petits muscles des mains et des pieds (en particulier, atrophie des muscles thénariens et hypothénariens), une augmentation de la concentration sérique de la créatine kinase et une expression fortement réduite de la cavéoline-3, mise en évidence par biopsie musculaire. Une hypertrophie des mollets, un pied creux et des signes d'hyperexcitabilité musculaire peuvent s'observer chez certains patients."},"de":{"name":"Myopathie, distale, Typ Tateyama"},"es":{"name":"Miopatía distal tipo Tateyama","definition":"La miopatía distal tipo Tateyama, es un trastorno de miopatía distal lentamente progresivo, genético y poco frecuente, caracterizado por atrofia y debilidad muscular limitada a los músculos pequeños de las manos y los pies (en particular, atrofia muscular tenar e hipotenar), aumento de la creatinquinasa sérica y marcada disminución de la expresión de caveolina-3 en biopsias musculares. Algunos afectados también pueden presentar hipertrofia de la pantorrilla, pies cavos y signos de hiperexcitabilidad muscular."},"it":{"name":"Miopatia distale, tipo Tateyama","definition":"La miopatia distale tipo Tateyama è una miopatia distale rara, di origine genetica, a progressione lenta, caratterizzata da atrofia e debolezza limitate ai piccoli muscoli delle mani e dei piedi (in particolare si osserva atrofia dei muscoli dell'eminenza tenar e ipotenar), associate ad un aumento dei livelli di creatin-chinasi nel siero e ad una marcata riduzione dell'espressione della caveolina-3 sulla biopsia muscolare. Alcuni pazienti presentano inoltre ipertrofia dei polpacci, piede cavo e segni di ipereccitabilità muscolare."},"nl":{"name":"Distale myopathie, Tateyama-type","definition":"Distale myopathie, Tateyama-type, is een zeldzame, genetische, traag progressieve, distale myopathie, gekarakteriseerd door spierzwakte en -atrofie beperkt tot kleine spieren van handen en voeten (voornamelijk atrofie van de spieren van duimmuis (thenar) en pinkmuis (hypothenar)), verhoogd gehalte van creatinekinase in serum, en sterk verlaagde expressie van caveoline-3 bij spierbiopsie. Sommige patiënten kunnen ook hypertrofie van kuit, pes cavus (holvoet) en tekenen van hyperexciteerbaarheid van spieren vertonen."},"pt":{"name":"Miopatia distal, tipo Tateyama"},"pl":{"name":"Miopatia dystalna typ Tateyamiego","definition":"*Miopatia dystalna typu Tateyamiego jest rzadką, genetycznie uwarunkowaną, powoli postępującą miopatią dystalną, która charakteryzuje się zanikiem i osłabieniem mięśni, dotyczącym głównie małych mięśni dłoni i stóp (w szczególności obserwuje się zanik mięśni kłębu i kłębika), zwiększonym stężeniem kinazy kreatynowej w surowicy krwi oraz znacznie zmniejszoną ekspresją kaweoliny-3 w bioptatach mięśni. U niektórych pacjentów obserwuje się przerost łydek, stopę wydrążoną i objawy nadpobudliwości mięśni."},"cs":{"name":"Distální myopatie, Tateyamův typ"},"uk":{"name":"Дистальна міопатія, тип Татеяма","definition":"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability."},"zh":{"name":"立山型远端肌病","definition":"远端肌病，Tateyama型是一种罕见的、遗传性的、缓慢进展的远端肌病，其特点是肌肉萎缩和无力，仅限于手足小肌群（尤其是臀肌和下臀肌萎缩），血清肌酸激酶增加，肌肉活检时caveolin-3表达严重降低。部分患者还可出现腓肠肌肥大、高弓足和肌肉过度兴奋的症状。"},"tr":{"name":"Distal miyopati, Tateyama tipi"}},"xrefs":[{"source":"OMIM","code":"614321","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0013686","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280443","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":207078,"name":"Qualitative or quantitative defects of caveolin-3","classifications":[156]}],"children":[],"genes":[{"symbol":"CAV3","name":"caveolin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11805270[PMID]_18930476[PMID]","hgnc":"1529","ensembl":"ENSG00000182533","omim":"601253","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11805270[PMID]_15580566[PMID]_18930476[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"11805270[PMID]_15580566[PMID]_18930476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-14","source":"11805270[PMID]_18930476[PMID]","terms":[{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030089","label":"Abnormal muscle fiber protein expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008962","label":"Calf muscle hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003760","label":"Percussion-induced rapid rolling muscle contractions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Excluded (0%)","criteria":null}]}}