{"orpha":178461,"name":"X-linked myopathy with postural muscle atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XMPMA"],"definition":"A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178461/","orphanet_url":"https://www.orpha.net/en/disease/detail/178461","names":{"fr":{"name":"Myopathie liée à l'X avec atrophie des muscles posturaux","synonyms":["XMPMA"],"definition":"Dystrophie musculaire progressive rare caractérisée par une myopathie scapulo-axio-péronéale débutant à l'âge adulte. La présentation clinique comprend une atrophie de la ceinture scapulaire, un décollement des omoplates, une atrophie musculaire axiale des muscles posturaux avec hypertrophie généralisée. En règle générale, une rigidité de la nuque et de la colonne vertébrale, un tendon d'Achille raccourci et une insuffisance respiratoire apparaissent à un stade plus tardif de la maladie."},"de":{"name":"X-chromosomale Myopathie mit posturaler Muskelatrophie","synonyms":["XMPMA"]},"es":{"name":"Miopatía ligada al cromosoma X con atrofia de la musculatura postural","synonyms":["XMPMA"],"definition":"La miopatía ligada al cromosoma X con atrofia de la musculatura de mantenimiento postural, es una distrofia muscular progresiva poco frecuente caracterizada por miopatía escápulo-axio-peroneal de inicio en adultos. La presentación clínica incluye atrofia de la cintura escapular, aleteo escapular, atrofia muscular axial de los músculos posturales asociada a hipertrofia generalizada. Por lo general, durante en el curso de la enfermedad, se presentan otros síntomas, tales como rigidez cervical y espinal, acortamiento del tendón de Aquiles e insuficiencia respiratoria."},"it":{"name":"Miopatia legata all'X con atrofia muscolare posturale","definition":"La miopatia legata all'X con atrofia muscolare posturale è una distrofia muscolare progressiva rara, caratterizzata da miopatia scapolo-assio-peroneale ad esordio nell'adulto. Il quadro clinico comprende l'atrofia del cingolo della spalla, le scapole alate, l'atrofia dei muscoli assiali posturali associata ad un'ipertrofia generalizzata. Con la progressione della malattia i pazienti sviluppano rigidità del collo e della colonna vertebrale, accorciamento del tendine d'Achille ed insufficienza respiratoria."},"nl":{"name":"X-gebonden myopathie met posturale spieratrofie","synonyms":["X-gebonden myopathie met posturale musculaire atrofie","XMPMA"],"definition":"X-gebonden myopathie met posturale spieratrofie is een zeldzame progressieve musculaire dystrofie die gekarakteriseerd wordt door een in de volwassenheid aanvangende scapulo-axio-peroneale myopathie. Het klinisch beeld omvat atrofie van de schoudergordel, afstaande schouderbladen, en axiale musculaire atrofie van posturale spieren gecombineerd met een gegeneraliseerde hypertrofie. Later in het ziekteverloop zijn doorgaans rigiditeit van de nek/hals, rigide wervelkolom, inkorting van de achillespees, en respiratoire insufficiëntie aanwezig."},"pt":{"name":"Miopatia ligada ao X com atrofia dos músculos posturais"},"pl":{"name":"Miopatia sprzężona z chromosomem X z atrofią mięśni posturalnych","synonyms":["XMPMA"]},"cs":{"name":"X-vázaná myopatie s posturální svalovou atrofií","synonyms":["XMPMA"]},"uk":{"name":"Х-зчеплена міопатія з атрофією постуральних мязів","synonyms":["XMPMA"],"definition":"A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."},"zh":{"name":"X连锁的体位性肌萎缩肌病","synonyms":["XMPMA"],"definition":"X连锁肌病伴姿势性肌萎缩是一种罕见的进行性肌营养不良症，其特征为成人发病的肩胛腓骨肌病。其主要临床表现为肩胛肌萎缩、翼状肩胛、姿势性轴位肌萎缩伴全身性肥大。典型症状为颈部肌肉僵硬，脊柱强直，跟腱缩短，病程后期出现呼吸功能不全。"},"tr":{"name":"Postural kas atrofisi ile seyreden X'e bağlı miyopati","synonyms":["XMPMA"]}},"xrefs":[{"source":"OMIM","code":"300696","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"420677690"},{"source":"MONDO","code":"0010401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678055","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","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":"18179888[PMID]","hgnc":"3702","ensembl":"ENSG00000022267","omim":"300163","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"19687455[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19687455[PMID]"}],"phenotypes":null}