{"orpha":565837,"name":"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LGMD type R23","Laminin subunit alpha 2-related LGMD R23","Laminin subunit alpha 2-related late-onset muscular dystrophy"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565837/","orphanet_url":"https://www.orpha.net/en/disease/detail/565837","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la sous-unité alpha 2 de la laminine R23","synonyms":["Dystrophie musculaire des ceintures à début tardif liée à la sous-unité alpha 2 de la laminine","LGMD liée à la sous-unité alpha 2 de la laminine R23","LGMD type R23"],"definition":"Dystrophie musculaire rare des ceintures autosomique récessive, caractérisée par l'apparition, entre l'enfance et l'âge adulte, d'une faiblesse musculaire lentement progressive des ceintures, souvent accompagnée d'une hypertrophie des mollets et d'un taux modérément élevé de créatine kinase. Les patients conservent la capacité de se déplacer, mais peuvent présenter une légère déficience intellectuelle, des crises convulsives, des migraines ou une atteinte cardiopulmonaire. Des cas de cardiomyopathie dilatée ont été rapportés. L'IRM cérébrale montre typiquement un hypersignal sur les séquences pondérées en T2. La biopsie musculaire met souvent en évidence des anomalies dystrophiques."},"de":{"name":"Laminin-Alpha-2-assoziierte Gliedergürtelmuskeldystrophie","synonyms":["Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 23","LAMA2-assoziierte spät-einsetzende Muskeldystrophie","LGMDR23"],"definition":"Eine autosomal-rezessive Gliedergürtel-Muskeldystrophie, bei der im Kindes- bis Erwachsenenalter eine langsam fortschreitende Gliedergürtel-Muskelschwäche auftritt, die häufig von einer Wadenhypertrophie und mäßig erhöhten Kreatinkinase-Werten begleitet wird. Die Patienten bleiben gehfähig, können aber eine leichte Intelligenzminderung, Krampfanfälle, Migräne oder eine kardiopulmonale Beteiligung aufweisen. Es wurde über das Auftreten einer dilatativen Kardiomyopathie berichtet. Die MRT des Gehirns zeigt typischerweise eine Hyperintensität in T2-gewichteten Sequenzen. Die Muskelbiopsie zeigt häufig dystrophische Merkmale."},"es":{"name":"Distrofia muscular de cinturas R23 asociada a la subunidad alfa 2 de la laminina","synonyms":["Distrofia muscular de inicio tardío asociada a la subunidad alfa 2 de la laminina"],"definition":"Es una distrofia muscular de cinturas autosómica recesiva poco frecuente caracterizada por un inicio entre la infancia y la edad adulta de debilidad muscular de cinturas lentamente progresiva, a menudo acompañada de hipertrofia de la pantorrilla y niveles de creatina cinasa moderadamente elevados. Los pacientes conservan la capacidad de deambular, pero pueden presentar de forma variable una discapacidad intelectual leve, convulsiones, migraña o afectación cardiopulmonar. Se ha descrito el desarrollo de miocardiopatía dilatada. La RM cerebral típicamente muestra hiperintensidad en secuencias potenciadas en T2. La biopsia muscular comúnmente revela características distróficas."},"it":{"name":"Distrofia muscolare dei cingoli tipo R23 correlata alla subunità alfa-2 della laminina","synonyms":["Distrofia muscolare ad esordio tardivo correlata alla subunità alfa-2 della laminina","LGMD R23 correlata alla subunità alfa-2 della laminina","LGMD tipo R23"]},"nl":{"name":"Laminine subeenheid alfa 2-gerelateerde limb-girdle-spierdystrofie R23","synonyms":["Laminine subeenheid alfa 2-gerelateerde laat aanvangende spierdystrofie"],"definition":"Een zeldzame autosomaal recessieve limb-girdle-spierdystrofie, gekenmerkt door in de kindertijd tot volwassenheid optredende traag progressieve spierzwakte van bekken- en schoudergordel, vaak vergezeld van hypertrofie van kuit, en matig verhoogde gehaltes van creatinekinase. Patiënten blijven mobiel maar kunnen zich variabel presenteren met milde intellectuele achterstand, insulten, migraine, of cardiopulmonale betrokkenheid. Optreden van gedilateerde cardiomyopathie werd reeds gerapporteerd. Beeldvorming van hersenen met MRI toont doorgaans hyperintensiteit in T2-gewogen sequenties. Spierbiopsie toont doorgaans dystrofische kenmerken."},"pt":{"name":"Distrofia das cinturas musculares dos membros R23 sub-unidade alfa 2 da laminina-relacionada","definition":"Distrofia muscular das cinturas autossómica recessiva rara, caracterizada por início da infância à idade adulta de fraqueza muscular das cinturas lentamente progressiva, frequentemente acompanhada por hipertrofia dos gémeos e níveis moderadamente elevados de creatina quinase. Os doentes permanecem ambulatórios, mas podem apresentar variavelmente perturbação do desenvolvimento intelectual leve, convulsões, enxaqueca ou envolvimento cardiopulmonar. Foi reportada a ocorrência de cardiomiopatia dilatada. A ressonância magnética cerebral normalmente demonstra hiperintensidade nas sequências ponderadas em T2. A biópsia muscular comummente demonstra características distróficas."},"pl":{"name":"Dystrofia mięśniowa kończynowo-obręczowa związana z podjednostką alfa 2 lamininy R23","synonyms":["LGMD type R23","Laminin subunit alpha 2-related LGMD R23","Laminin subunit alpha 2-related late-onset muscular dystrophy"]},"cs":{"name":"Končetinová svalová dystrofie R23 související s lamininovou podjednotkou alfa 2","synonyms":["LGMD type R23","Laminin subunit alpha 2-related LGMD R23","Laminin subunit alpha 2-related late-onset muscular dystrophy"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія R23, повязана з ламініновою субодиницею альфа-2","synonyms":["Пізня мязова дистрофія, повязана з ламініновою субодиницею альфа-2","Субодиниця ламініну альфа-2, повязана з LGMD R23","LGMD тип R23"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features."},"zh":{"name":"层粘连蛋白亚基α2相关的肢肌营养不良 R23型","synonyms":["肢肌营养不良R23型"]},"tr":{"name":"Laminin alt birimi alfa 2-ilişkili ekstremite kavşak tip kas distrofisi R23","synonyms":["Laminin alt birimi alfa 2-ilişkili LGMD R23","Laminin alt birimi alfa 2-ilişkili geç başlangıçlı kas distrofisi","LGMD tip R23"]}},"xrefs":[{"source":"OMIM","code":"618138","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0029136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680122","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":207094,"name":"Laminin subunit alpha 2-related muscular dystrophy","classifications":[156]}],"children":[],"genes":[{"symbol":"LAMA2","name":"laminin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21953594[PMID]","hgnc":"6482","ensembl":"ENSG00000196569","omim":"156225","loci":["6q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}