{"orpha":599,"name":"Distal myopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Distal muscular dystrophy"],"definition":"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-599/","orphanet_url":"https://www.orpha.net/en/disease/detail/599","names":{"fr":{"name":"Myopathie distale","synonyms":["Dystrophie musculaire distale"],"definition":"Groupe de maladies musculaires qui partagent le tableau clinique associant une faiblesse prédominante et une atrophie commençant au niveau des pieds et/ou des mains."},"de":{"name":"Myopathie, distale","synonyms":["Muskeldystrophie, distale"]},"es":{"name":"Miopatía distal","synonyms":["Distrofia muscular distal"],"definition":"Es un grupo de enfermedades musculares que comparten un patrón clínico con predominio de debilidad y atrofia que comienza en los pies y/o las manos."},"it":{"name":"Miopatia distale","synonyms":["Distrofia muscolare distale"],"definition":"La miopatia distale comprende un gruppo di malattie muscolari che presentano un quadro clinico comune, caratterizzato per lo più da debolezza e atrofia ad esordio nei piedi e/o nelle mani."},"nl":{"name":"Distale myopathie","synonyms":["Distale musculaire dystrofie","Distale spierdystrofie"],"definition":"Distale myopathie verwijst naar een groep van spierziekten die een klinisch patroon delen van overheersende zwakheid en atrofie die beginnen in de voeten en/of handen."},"pt":{"name":"Miopatia distal"},"pl":{"name":"Miopatia dystalna","synonyms":["Dystalna dystrofia mięśniowa"]},"cs":{"name":"Distální myopatie","synonyms":["Svalová distální dystrofie"]},"uk":{"name":"Дистальна міопатія","synonyms":["Дистальна мязова дистрофія"],"definition":"Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."},"zh":{"name":"远端型肌病","synonyms":["远端型肌营养不良症"]},"tr":{"name":"Distal miyopati","synonyms":["Distal kaş distrofisi"]}},"xrefs":[{"source":"ICD-11","code":"8C75","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"596283352"},{"source":"MONDO","code":"0018949","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18949","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D049310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751336","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206634,"name":"Genetic skeletal muscle disease","classifications":[156,181]}],"children":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","type":"Category"},{"orpha":206653,"name":"Autosomal recessive distal myopathy","type":"Category"},{"orpha":700143,"name":"X-linked distal myopathy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]_[EXPERT]"}],"phenotypes":null}