{"orpha":55596,"name":"HNRNPDL-related limb-girdle muscular dystrophy D3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant limb-girdle muscular dystrophy type 1G","HNRNPDL-related LGMD D3","LGMD type 1G","LGMD1G","Limb-girdle muscular dystrophy type 1G"],"definition":"A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-55596/","orphanet_url":"https://www.orpha.net/en/disease/detail/55596","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à HNRNPDL D3","synonyms":["Dystrophie musculaire des ceintures autosomique dominante type 1G","Dystrophie musculaire des ceintures type 1G","LGMD associée à HNRNPDL D3","LGMD type 1G","LGMD1G"],"definition":"La dystrophie musculaire des ceintures autosomique dominante type 1G (LGMD1G) est une sous-type léger de dystrophie musculaire des ceintures autosomique dominante caractérisé par l'apparition à l'âge adulte d'une faiblesse proximale, légère et progressive des muscles des ceintures scapulaire et pelvienne, et d'une limitation permanente de la flexion des doigts et des orteils, sans contracture de flexion. Des taux de créatine kinase sérique normaux à très élevés sont rapportés."},"de":{"name":"HNRNPDL-assoziierte Gliedergürtelmuskeldystrophie D3","synonyms":["Gliedergürtelmuskeldystrophie Typ 1G","Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1G","HNRNPDL-assoziierte LGMD D3","LGMD Typ 1G","LGMD1G"],"definition":"Eine seltene, milde Unterform der autosomal-dominanten Gliedergürtel-Muskeldystrophie, die typischerweise im Erwachsenenalter manifestiert. Sie ist gekennzeichnet durch milde, progressive, proximale Schwäche der Becken- und Schultergürtelmuskulatur und einer progressiven, dauerhaften Einschränkung der Finger- und Zehenbeugung ohne Flexionskontrakturen. Es werden normale bis stark erhöhte Kreatinkinase-Serumspiegel beobachtet."},"es":{"name":"Distrofia muscular de cinturas D3 asociada a HNRNPDL","synonyms":["Distrofia muscular de cinturas autosómica dominante tipo 1G","LGMD1G"],"definition":"Es un subtipo leve de distrofia muscular de cinturas autosómica dominante de inicio, por lo habitual, en la edad adulta caracterizado por debilidad proximal progresiva de los músculos de la cintura pélvica y escapular y limitación progresiva y permanente de la flexión de dedos de las manos y pies sin contracturas en flexión. Se observan niveles de normales a muy elevados de creatinquinasa sérica."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1G","synonyms":["LGMD1G"],"definition":"La distrofia muscolare dei cingoli autosomica dominante (LGMD1G) è un sottotipo lieve di distrofia muscolare dei cingoli, ad eredità autosomica dominante, caratterizzato di solito da debolezza lieve e progressiva dei muscoli prossimali dei cingoli pelvici e della spalla ad esordio nell'età adulta e dalla riduzione progressiva e permanente della flessione delle dita delle mani e dei piedi senza contratture in flessione. Si possono osservare valori normali o molto elevati di creatina chinasi nel siero."},"nl":{"name":"HNRNPDL-gerelateerde limb-girdle-spierdystrofie D3","synonyms":["LGMD1G","Limb-girdle-spierdystrofie type 1G","Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1G","Autosomaal dominante ledemaatgordel-spierdystrofie type 1G","Autosomaal dominante limb-girdle-spierdystrofie type 1G","HNRNPDL-gerelateerde LGMD D3","LGMD type 1G"],"definition":"Een zeldzaam, mild subtype van autosomaal dominante limb-girdle-spierdystrofie, gekarakteriseerd door aanvang op doorgaans volwassen leeftijd van milde, progressieve, proximale zwakte van spieren van de bekken- en schoudergordels, alsook progressieve, permanent beperkte flexie van vingers en tenen zonder flexiecontracturen. Er worden normale tot sterk verhoogde gehaltes van creatinekinase in serum waargenomen."},"pt":{"name":"Distrofia muscular das cinturas dos membros D3 HNRNPDL-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica dominante tipo 1G"]},"pl":{"name":"Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1G","synonyms":["LGMD1G"]},"cs":{"name":"Autozomálně dominantní svalová dystrofie pletencového typu 1G","synonyms":["LGMD1G"]},"uk":{"name":"HNRNPDL-асоційована кінцівково-поясна мязова дистрофія D3","synonyms":["Аутосомно-домінантна мязова дистрофія мязів пояса кінцівок, тип 1G","LGMD D3, повязаний з HNRNPDL","LGMD тип 1G","LGMD1G","Мязова дистрофія мязів поясу кінцівок, тип 1G"],"definition":"A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed."},"zh":{"name":"HNRNPDL相关性肢带肌营养不良D3","synonyms":["常染色体显性遗传性肢带型肌营养不良1G型"]},"tr":{"name":"HNRNPDL--ilişkili ekstremite-kavşak tipi kas distrofisi D3","synonyms":["LGMD1G","LGMD tipi 1G","HNRNPDL-ilgili LGMD D3","Ekstremite-kavşak tipi kas distrofisi tip 1G","Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1G"]}},"xrefs":[{"source":"OMIM","code":"609115","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012193","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836765","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":"HNRNPDL","name":"heterogeneous nuclear ribonucleoprotein D like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24647604[PMID]","hgnc":"5037","ensembl":"ENSG00000152795","omim":"607137","loci":["4q21.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24647604[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24647604[PMID]"}],"phenotypes":null}