{"orpha":431272,"name":"X-linked scapuloperoneal muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked SPMD","X-linked scapuloperoneal syndrome"],"definition":"A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431272/","orphanet_url":"https://www.orpha.net/en/disease/detail/431272","names":{"fr":{"name":"Dystrophie musculaire scapulo-péronière liée à l'X","synonyms":["SPMD liée à l'X","Syndrome scapulo-peronier lié à l'X"],"definition":"Dystrophie musculaire rare d'origine génétique caractérisée par la survenue concomitante d'une faiblesse musculaire péronière et scapulaire à début tardif, se manifestant principalement par une faiblesse des membres supérieurs proximaux et des membres inférieurs distaux, ainsi que par un décollement des omoplates."},"de":{"name":"X-chromosomale scapulo-peroneale Muskeldystrophie","synonyms":["X-chromosomale SPMD","X-chromosomales scapuloperoneales Syndrom"],"definition":"Eine seltene, genetisch bedingte Muskeldystrophie, die durch das gleichzeitige Auftreten einer spät einsetzenden Scapula- und Peronaeus-Muskelschwäche gekennzeichnet ist, die sich vor allem in einer Schwäche der distalen unteren und proximalen oberen Gliedmaßen sowie einer Scapula alata manifestiert."},"es":{"name":"Distrofia muscular escapuloperoneal ligada al cromosoma X","synonyms":["SPMD ligado al cromosoma X","Síndrome escapuloperoneal ligado al cromosoma X"],"definition":"Es una distrofia muscular genética y poco frecuente caracterizada por la coexistencia de debilidad muscular escapular y peroneal de inicio tardío. Se manifiesta principalmente con debilidad distal de las extremidades inferiores y proximal de las extremidades superiores, así como escápula alada."},"it":{"name":"Distrofia muscolare scapolo-peroneale legata all'X","synonyms":["SPMD legata all'X","Sindrome scapolo-peroneale legata all'X"],"definition":"È una distrofia muscolare genetica rara, caratterizzata da debolezza dei muscoli scapolari e peroneali ad esordio tardivo, che esordisce con debolezza della porzione distale degli arti inferiori e della porzione prossimale degli arti superiori e con scapole alate."},"nl":{"name":"X-gebonden scapuloperoneale spierdystrofie","synonyms":["X-gebonden SPMD","X-gebonden scapuloperoneaal syndroom","X-gebonden scapuloperoneale musculaire dystrofie"],"definition":"Een zeldzame, genetische, musculaire dystrofie die gekarakteriseerd wordt door het samen voorkomen van laat aanvangende scapulaire en peroneale spierzwakte, en die zich voornamelijk manifesteert met spierzwakte in de distale onderste ledematen en proximale bovenste ledematen, en met afstaande schouderbladen."},"pt":{"name":"Miopatia escapuloperoneal, ligada ao cromossoma X"},"pl":{"name":"Dystrofia łopatkowo-strzałkowa sprzężona z chromosomem X","synonyms":["SPMD sprzężony z chromosomem X","Zespół łopatkowo-strzałkowy sprzężony z chromosomem X"]},"cs":{"name":"X-vázaná skapuloperoneální svalová dystrofie","synonyms":["X-vázaná SPMD","X-vázaný skapuloperoneální syndrom"]},"uk":{"name":"Х-зчеплена скапулоперонеальна мязова дистрофія","synonyms":["Х-зчеплений скапулоперонеальний синдром","Х-звязаний SPMD"],"definition":"A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging."},"zh":{"name":"X连锁遗传性肩胛腓骨部肌营养不良","synonyms":["X连锁肩胛腓骨部综合征"],"definition":"一种罕见的遗传性肌营养不良症，其特征是同时出现迟发的肩胛和腓骨肌无力，主要表现为下肢远端和上肢近端肌无力以及翼状肩。"},"tr":{"name":"X'e bağlı skapuloperoneal kas distrofisi","synonyms":["X bağlantılı SPMD","X bağlantılı skapuloperoneal sendrom"]}},"xrefs":[{"source":"OMIM","code":"300695","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399872","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7608","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":431263,"name":"Late-onset scapuloperoneal muscular dystrophy with hyaline bodies","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FHL1","name":"four and a half LIM domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18179901[PMID]","hgnc":"3702","ensembl":"ENSG00000022267","omim":"300163","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"18179901[PMID]_20633900[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18179901[PMID]_20633900[PMID]"}],"phenotypes":null}