{"orpha":1878,"name":"TRIM32-related limb-girdle muscular dystrophy R8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2H","LGMD due to TRIM32 deficiency","LGMD type 2H","LGMD2H","Limb-girdle muscular dystrophy due to TRIM32 deficiency","Limb-girdle muscular dystrophy type 2H","Sarcotubular myopathy","TRIM32-related LGMD R8"],"definition":"A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1878/","orphanet_url":"https://www.orpha.net/en/disease/detail/1878","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à TRIM32 R8","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2H","Dystrophie musculaire des ceintures par déficit en TRIM32","Dystrophie musculaire des ceintures type 2H","LGMD associée à TRIM32 R8","LGMD par déficit en TRIM32","LGMD type 2H","LGMD2H","Myopathie sarcotubulaire"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2H (LGMD2H) est un sous-type léger de dystrophie musculaire des ceintures autosomique récessive, caractérisé par une faiblesse musculaire proximale, lentement progressive, et une fonte des muscles des ceintures scapulaire et pelvienne survenant habituellement au cours de la deuxième ou de la troisième décennie. La présentation clinique est variable et peut inclure une pseudo-hypertrophie des mollets, des contractures articulaires, une scapula ailée, des crampes musculaires et/ou une atteinte des muscles faciaux et respiratoires."},"de":{"name":"TRIM32-assoziierte Gliedergürtelmuskeldystrophie R8","synonyms":["LGMD Typ 2H","LGMD durch TRIM32-Defizienz","LGMD2H","Myopathie, sarkotubuläre","TRIM32-assoziierte LGMD R8","Gliedergürtelmuskeldystrophie Typ 2H","Gliedergürtelmuskeldystrophie durch TRIM32-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2H"],"definition":"Eine milde Unterform der autosomal rezessiven Gliedergürtel-Muskeldystrophie, die durch eine langsam fortschreitende proximale Muskelschwäche und Muskelschwund des Becken- und Schultergürtels gekennzeichnet ist und in der Regel im zweiten oder dritten Lebensjahrzehnt auftritt. Die klinische Präsentation ist variabel und kann Wadenpseudohypertrophie, Gelenkkontrakturen, Scapula alata, Muskelkrämpfe und/oder eine Beteiligung der Gesichts- und Atemmuskulatur umfassen."},"es":{"name":"Distrofia muscular de cinturas R8 asociada a TRIM32","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2H","Distrofia muscular de cinturas por deficiencia de TRIM32","LGMD2H","Miopatía sarcotubular"],"definition":"Es un subtipo leve de distrofia muscular de cinturas autosómica recesiva caracterizada por debilidad muscular proximal de progresión lenta y una atrofia de la cintura pélvica y escapular con inicio, por lo general, en la segunda o la tercera década de vida. El cuadro clínico es variable y puede incluir pseudohipertrofia gemelar, contracturas articulares, escápula alada, calambres musculares y/o afectación de los músculos faciales y respiratorios."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2H","synonyms":["Distrofia muscolare dei cingoli da deficit di TRIM32","LGMD2H","Miopatia sarcotubulare"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2H (LGMD2H) è un sottotipo lieve di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia a progressione lenta dei muscoli prossimali dei cingoli pelvici e della spalla; di solito esordisce nella seconda o terza decade di vita. Il quadro clinico è variabile e comprende la pseudoipertrofia del polpaccio, le contratture articolari, le scapole alate, i crampi muscolari e/o l'interessamento dei muscoli facciali e respiratori."},"nl":{"name":"TRIM32-gerelateerde limb-girdle-spierdystrofie R8","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2H","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2H","Autosomaal recessieve limb-girdle-spierdystrofie type 2H","LGMD door TRIM32-deficiëntie","LGMD type 2H","LGMD2H","Ledemaatgordel-spierdystrofie als gevolg van TRIM32-deficiëntie","Limb-girdle musculaire dystrofie type 2H","Sarcotubulaire myopathie","TRIM32-gerelateerde LGMD R8"],"definition":"Een mild subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door traag progressieve zwakte en atrofie van proximale spieren van de bekken- en schoudergordels die meestal aanvangen tijdens het tweede of derde levensdecennium. Het klinisch beeld is variabel en omvat mogelijk pseudohypertrofie van kuit, gewrichtscontracturen, afstaande schouderbladen, spierkrampen en/of betrokkenheid van aangezichts- en ademhalingsspieren."},"pt":{"name":"Distrofia muscular das cinturas dos membros R8 TRIM32-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2H","Distrofia muscular das cinturas dos membros por deficiência de TRIM32"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2H","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru TRIM32","LGMD2H"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2H","synonyms":["LGMD2H","Sarkotubulární myopatie","Pletencová svalová dystrofie způsobená deficitem TRIM32"]},"uk":{"name":"TRIM32-асоційована кінцівково-поясна мязова дистрофія R8","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2H","LGMD внаслідок дефіциту TRIM32","LGMD тип 2H","LGMD2H","Мязова дистрофія поясу кінцівок внаслідок дефіциту TRIM32","Мязова дистрофія поясу кінцівок, тип 2H","Саркотубулярна міопатія","LGMD R8, повязаний з TRIM32"],"definition":"A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement."},"zh":{"name":"TRIM32相关肢带型肌营养不良症R8型","synonyms":["常染色体隐性肢带型肌营养不良症2H型"]},"tr":{"name":"TRIM32 -ilişkili ekstremite kavşak tip kas distrofisi R8","synonyms":["LGMD2H","LGMD tipi 2H","Sarkotubüler miyopati","TRIM32-ilgili LGMD R8","TRIM32 eksikliğine bağlı LGMD","Ekstremite kavşak tip kas distrofisi tip 2H","TRIM32 eksikliğine bağlı ekstremite-kavşak tip kas distrofisi","Otozomal Çekinik ekstremite-kavşak tip kas distrofisi tip 2H"]}},"xrefs":[{"source":"OMIM","code":"254110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2020366790"},{"source":"MONDO","code":"0009683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535897","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270968","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":207107,"name":"Qualitative or quantitative defects of TRIM32","classifications":[156]}],"children":[],"genes":[{"symbol":"TRIM32","name":"tripartite motif containing 32","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"16380","ensembl":"ENSG00000119401","omim":"602290","loci":["9q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null}]}}