{"orpha":565899,"name":"POMGNT2-related limb-girdle muscular dystrophy R24","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["POMGNT2-related LGMD R24","POMGNT2-related muscular dystrophy","LGMD type R24","Limb-girdle muscular dystrophy type R24"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565899/","orphanet_url":"https://www.orpha.net/en/disease/detail/565899","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à POMGNT2 R24","synonyms":["Dystrophie musculaire associée à POMGNT2","Dystrophie musculaire des ceintures type R24","LGMD associée à POMGNT2 R24","LGMD type R24"],"definition":"Dystrophie musculaire des ceintures autosomique récessive rare, caractérisée par l'apparition, entre l'enfance et l'adolescence, d'une forme plus légère de dystrophie musculaire des ceintures, avec ou sans déficience intellectuelle. Les patients présentent une faiblesse musculaire variable des segments proximaux des membres et une hypertrophie des mollets, ainsi qu'un taux élevé de créatine kinase sérique."},"de":{"name":"POMGNT2-assoziierte Gliedergürtelmuskeldystrophie R24","synonyms":["POMGNT2-assoziierte Muskeldystrophie"],"definition":"Eine seltene autosomal-rezessive Gliedergürtel-Muskeldystrophie, bei der eine mildere Form der Gliedergürtel-Muskeldystrophie mit oder ohne Intelligenzminderung im Kindes- bis Jugendalter auftritt. Die Patienten weisen eine variable Muskelschwäche der proximalen Gliedmaßen mit Wadenhypertrophie und erhöhter Kreatinkinase im Serum auf."},"es":{"name":"Distrofia muscular de cinturas R24 asociada a POMGNT2","synonyms":["Distrofia muscular asociada a POMGNT2"],"definition":"Es una distrofia muscular de cinturas autosómica recesiva poco frecuente caracterizada por el inicio entre la lactancia y la adolescencia de una forma más leve de distrofia muscular de cinturas con o sin discapacidad intelectual. Los pacientes presentan debilidad muscular variable de las extremidades proximales con hipertrofia de la pantorrilla y elevación de la creatina cinasa sérica."},"it":{"name":"Distrofia muscolare dei cingoli tipo R24 correlata a POMGNT2","synonyms":["Distrofia muscolare correlata a POMGNT2","Distrofia muscolare dei cingoli tipo R24","LGMD R24 correlata a POMGNT2","LGMD tipo R24"]},"nl":{"name":"POMGNT2-gerelateerde limb-girdle-spierdystrofie R24","synonyms":["LGMD type R24","Limb-girdle-spierdystrofie type R24","POMGNT2-gerelateerde LGMD R24","POMGNT2-gerelateerde musculaire dystrofie"],"definition":"Een zeldzame autosomaal recessieve limb-girdle-spierdystrofie, gekenmerkt door infantiele tot adolescente aanvang van een mildere vorm van limb-girdle-spierdystrofie met of zonder intellectuele achterstand. Patiënten vertonen variabele spierzwakte van proximale ledematen met hypertrofie van kuit en verhoogde gehaltes van creatinekinase in serum."},"pt":{"name":"Distrofia das cinturas musculares dos membros R24 POMGNT2-relacionada","definition":"Distrofia muscular das cinturas autossómica recessiva rara caracterizada por início da infância à adolescência de uma forma mais leve de distrofia muscular das cinturas com ou sem perturbação do desenvolvimento intelectual. Os doentes apresentam fraqueza muscular dos membros proximais variável com hipertrofia dos gémeos e elevação da creatina quinase sérica."},"pl":{"name":"Dystrofia mięśniowa obręczowo-kończynowa związana z POMGNT2, R24","synonyms":["Dystrofia mięśniowa obręczow-kończynowa związana z POMGNT2"]},"cs":{"name":"Svalová dystrofie končetin související s POMGNT2 R24","synonyms":["POMGNT2-related LGMD R24","POMGNT2-related muscular dystrophy","LGMD type R24","Limb-girdle muscular dystrophy type R24"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія R24, повязана з POMGNT2","synonyms":["LGMD тип R24","Мязова дистрофія мязів поясу кінцівок, тип R24","LGMD R24, повязаний з POMGNT2","Мязова дистрофія, повязана з POMGNT2"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase."},"zh":{"name":"POMGNT2基因相关的肢肌营养不良症 R24型","synonyms":["肢肌营养不良症 R24型"]},"tr":{"name":"POMGNT2-ilişkili ekstremite kavşak tip kas distrofisi R24","synonyms":["LGMD tip R24","POMGNT2-ilişkili LGMD R24","POMGNT2-ilişkili kas distrofisi","Ekstremite-kavşak tipi kas distrofisi tip R24"]}},"xrefs":[{"source":"OMIM","code":"618135","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680123","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":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":207113,"name":"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27066570[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27066570[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-27","source":"27066570[PMID]","terms":[{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005912","label":"Biliary atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}