{"orpha":268129,"name":"Spheroid body myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268129/","orphanet_url":"https://www.orpha.net/en/disease/detail/268129","names":{"fr":{"name":"Myopathie à corps sphéroïdes","definition":"Une forme rare de myopathie myofibrillaire caractérisée par une faiblesse musculaire surtout proximale (pouvant être lentement progressive ou ne pas progresser), associée à des inclusions de corps sphéroïdes (composés de matériel myofilamenteux au sein de chaque fibre musculaire) à la biopsie du muscle squelettique. La présentation clinique peut varier, allant d'une forme asymptomatique à une faiblesse musculaire sévère se manifestant par des réflexes achilléens absents, une anomalie de la marche et/ou d'autres troubles moteurs."},"de":{"name":"Sphäroidkörper-Myopathie","definition":"Die Sphäroidkörper-Myopathie ist eine seltene Form der myofibrillären Myopathie, die durch eine vorwiegend proximale Muskelschwäche (die entweder nicht oder langsam fortschreitend sein kann) gekennzeichnet ist, die mit Sphäroidkörper-Einschlüssen (bestehend aus myofilamentärem Material innerhalb einzelner Muskelfasern) in Skelettmuskelbiopsien einhergeht. Die Präsentation ist vielfältig und kann von asymptomatisch bis zu schwerer Muskelschwäche reichen, die sich mit fehlenden Achillesreflexen, Gangstörungen und/oder anderen motorischen Behinderungen manifestiert."},"es":{"name":"Miopatía por cuerpos esferoides","definition":"La miopatía por cuerpos esferoides es una forma poco frecuente de miopatía miofibrilar caracterizada por debilidad muscular predominantemente proximal (que puede ser tanto no progresiva como de progresión lenta), asociada a la presencia de cuerpos de inclusión esferoides (compuestas de material miofilamentoso dentro de las fibras musculares individuales) en biopsias de músculo esquelético. La presentación es variada y puede ser desde asintomática hasta debilidad muscular grave que se manifiesta con ausencia del reflejo aquíleo, anomalías de la marcha y/u otras discapacidades motoras."},"it":{"name":"Miopatia con corpi sferoidi","definition":"La miopatia con corpi sferoidi è una forma rara di miopatia miofibrillare, caratterizzata prevalentemente da debolezza dei muscoli prossimali (non progressiva o a progressione lenta), associata a inclusioni di corpi sferoidi (composti da materiale miofilamentoso all'interno delle fibre muscolari), evidenziate con la biopsia muscolare. Il quadro clinico è variabile; i pazienti possono essere asintomatici, oppure presentare grave debolezza muscolare, che esordisce con l'assenza dei riflessi achillei, anomalie della deambulazione e/o altri deficit motori."},"nl":{"name":"'Spheroid body'-myopathie","definition":"Spheroid-body-myopathie is een zeldzame vorm van myofibrillaire myopathie die gekarakteriseerd wordt door zwakte van voornamelijk proximale spieren (die ofwel niet ofwel traag progressief kan zijn), geassocieerd met insluitsels van sferoïden (bestaande uit myofilamenteus materiaal binnenin individuele spiervezels) in biopten van skeletspieren. Het ziektebeeld varieert en kan gaan van asymptomatisch tot ernstige spierzwakte die zich manifesteert met afwezigheid van achillespeesreflexen, gangstoornis en/of andere motorische beperkingen."},"pt":{"name":"Miopatia com corpos esferóides"},"pl":{"name":"Miopatia z ciałkami sferoidalnymi"},"cs":{"name":"Myopatie sféroidních tělísek"},"uk":{"name":"Міопатія зі сфероподібними тільцями","definition":"Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations."},"zh":{"name":"球状体肌病","definition":"椭球体肌病是一种罕见的肌原纤维肌病，其主要特征是近端肌肉无力(可以是非进展性的，也可以是缓慢进行性的)，并伴有骨骼肌活检中的椭圆形体包涵体(由单个肌纤维内的肌丝状物质组成)。表现多种多样，从无症状到严重的肌肉无力，表现为跟腱反射缺失、步态异常和/或其他运动障碍。"},"tr":{"name":"Sfero vücut miyopatisi"}},"xrefs":[{"source":"OMIM","code":"609200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"83824621"},{"source":"MeSH","code":"C000598645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866785","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209224,"name":"Myotilinopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYOT","name":"myotilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16380616[PMID]","hgnc":"12399","ensembl":"ENSG00000120729","omim":"604103","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}