{"orpha":34516,"name":"DNAJB6-related limb-girdle muscular dystrophy D1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant limb-girdle muscular dystrophy type 1D","DNAJB6-related LGMD D1","LGMD type 1D","LGMD1D","Limb-girdle muscular dystrophy type 1D"],"definition":"A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34516/","orphanet_url":"https://www.orpha.net/en/disease/detail/34516","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à DNAJB6 D1","synonyms":["Dystrophie musculaire des ceintures autosomique dominante type 1D","Dystrophie musculaire des ceintures type 1D","LGMD associée à DNAJB6 D1","LGMD type 1D","LGMD1D"],"definition":"La dystrophie musculaire des ceintures autosomique dominante type 1D (LGMD1D) est un sous-type de dystrophie musculaire des ceintures autosomique dominante caractérisé par la survenue à l'âge adulte d'une faiblesse proximale de la ceinture pelvienne, lentement progressive, sans atteinte de la ceinture scapulaire ou avec une atteinte minimale. Il n'y a pas d'atteinte respiratoire ou cardiaque. Des taux légèrement à modérément élevés de créatine kinase sérique sont souvent observés, ainsi que des troubles de la marche."},"de":{"name":"DNAJB6-assoziierte Gliedergürtelmuskeldystrophie D1","synonyms":["DNAJB6-assoziierte LGMD D1","Gliedergürtelmuskeldystrophie Typ 1D","Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1D","LGMD Typ 1D","LGMD1D"],"definition":"Ein Subtyp der autosomal-dominanten Gliedergürtel-Muskeldystrophie, der durch eine langsam fortschreitende, proximale Beckengürtelschwäche im Erwachsenenalter gekennzeichnet ist, ohne oder mit nur geringer Beteiligung des Schultergürtels und ohne kardiale und respiratorische Symptome. Häufig werden leicht bis mäßig erhöhte Kreatinkinase-Serumspiegel und Gangstörungen beobachtet."},"es":{"name":"Distrofia muscular de cinturas D1 asociada a DNAJB6","synonyms":["Distrofia muscular de cinturas autosómica dominante tipo 1D","LGMD1D"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica dominante de inicio en la edad adulta caracterizado por debilidad proximal de la cintura pélvica de progresión lenta, con ausencia o afectación mínima de la cintura escapular, y ausencia de síntomas cardiorrespiratorios. A menudo se observan niveles de leve a moderadamente elevados de la creatina quinasa sérica y anomalías de la marcha."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1D","synonyms":["LGMD1D"],"definition":"La distrofia muscolare dei cingoli autosomica dominante tipo 1D (LGMD1D) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica dominante, caratterizzato da debolezza dei muscoli prossimali dei cingoli pelvici a progressione lenta ed esordio nell'età adulta; l'interessamento dei cingoli della spalla è minimo o nullo; sono assenti i sintomi cardiaci e respiratori. Spesso sono presenti livelli lievemente o moderatamente elevati di creatina chinasi nel siero e anomalie della deambulazione."},"nl":{"name":"DNAJB6-gerelateerde limb-girdle-spierdystrofie D1","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1D","Autosomaal dominante ledemaatgordel-spierdystrofie type 1D","Autosomaal dominante limb-girdle-spierdystrofie type 1D","DNAJB6-gerelateerde LGMD D1","LGMD type 1D","LGMD1D","Limb-girdle-spierdystrofie type 1D"],"definition":"Een subtype van autosomaal dominante limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve zwakte van de proximale bekkengordel, met geen of slechts minimale betrokkenheid van de schoudergordel, en afwezigheid van cardiale en respiratoire symptomen. Mild tot matig verhoogd serumgehalte van creatinekinase en afwijkende gang worden frequent waargenomen."},"pt":{"name":"Distrofia muscular das cinturas dos membros D1 DNAJB6-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica dominante tipo 1D"]},"pl":{"name":"Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1D","synonyms":["LGMD1D"]},"cs":{"name":"Autozomálně dominantní pletencová svalová dystrofie, typ 1D","synonyms":["LGMD1D"]},"uk":{"name":"ДНКJB6-звязана кінцівково-поясна м’язова дистрофія D1","synonyms":["Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1D","LGMD D1, повязаний з DNAJB6","LGMD тип 1D","LGMD1D","Мязова дистрофія мязів поясу кінцівок, тип 1D"],"definition":"A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed."},"zh":{"name":"DNAJB6相关肢带肌营养不良D1型","synonyms":["常染色体显性遗传肢带肌营养不良症1D型"]},"tr":{"name":"DNAJB6-ilişkili ekstremite-kavşak tipi kas distrofisi D1","synonyms":["LGMD1D","LGMD tipi 1D","DNAJB6 -ilişkili LGMD D1","Ekstremite-kavşak tipi kas distrofisi tip 1D","Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1D"]}},"xrefs":[{"source":"OMIM","code":"603511","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0021018","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3501858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102014,"name":"Autosomal dominant limb-girdle muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNAJB6","name":"DnaJ heat shock protein family (Hsp40) member B6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22366786[PMID]_22334415[PMID]","hgnc":"14888","ensembl":"ENSG00000105993","omim":"611332","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26847086[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26847086[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-03","source":"26847086[PMID]","terms":[{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003715","label":"Myofibrillar myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030951","label":"Skeletal muscle fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010548","label":"Percussion myotonia","frequency":"Very rare (<4-1%)","criteria":null}]}}