{"orpha":369840,"name":"TRAPPC11-related limb-girdle muscular dystrophy R18","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2S","LGMD type 2S","LGMD2S","Limb-girdle muscular dystrophy type 2S","TRAPPC11-related LGMD R18"],"definition":"A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369840/","orphanet_url":"https://www.orpha.net/en/disease/detail/369840","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à TRAPPC11 R18","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2S","Dystrophie musculaire des ceintures type 2S","LGMD associée à TRAPPC11 R18","LGMD type 2S","LGMD2S"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2S (LGMD2S) est une forme de dystrophie musculaire des ceintures caractérisée par la survenue pendant l'enfance d'une faiblesse progressive des muscles proximaux (conduisant à une réduction de l'ambulation) associée à une myalgie et à de la fatigue. Les autres signes associés sont des mouvements hyperkinétiques apparaissant pendant la petite enfance, une ataxie troncale et un déficit intellectuel, ainsi qu'une scoliose, une dysplasie de la hanche, et plus rarement, des signes oculaires (myopie, cataracte) et des convulsions."},"de":{"name":"TRAPPC11-assoziierte Gliedergürtelmuskeldystrophie R18","synonyms":["Gliedergürtelmuskeldystrophie Typ 2S","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2S","LGMD Typ 2S","LGMD2S","TRAPPC11-assoziierte LGMD R18"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die durch eine im Kindesalter beginnende progressive proximale Muskelschwäche (die zu einer eingeschränkten Gehfähigkeit führt) mit Myalgie und Müdigkeit gekennzeichnet ist, zusätzlich zu hyperkinetischen Bewegungen im Kindesalter, Stammataxie und Intelligenzminderung. Weitere Manifestationen sind Skoliose, Hüftdysplasie und seltener okuläre Merkmale (z. B. Myopie, Katarakt) und Krampfanfälle."},"es":{"name":"Distrofia muscular de cinturas R18 asociada a TRAPPC11","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2S","LGMD2S"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por el inicio en la infancia de debilidad muscular proximal progresiva (que resulta en una reducción de la deambulación) acompañada de mialgia y fatiga, junto con movimientos hipercinéticos en el lactante, ataxia truncal y discapacidad intelectual. Otras manifestaciones adicionales descritas incluyen escoliosis, displasia de cadera y, menos frecuentemente, rasgos oculares (p.ej. miopía, catarata) y crisis epilépticas."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva, tipo 2S","synonyms":["LGMD2S"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2S (LGMD2S) è una forma di distrofia muscolare dei cingoli ad esordio infantile, caratterizzata da debolezza progressiva dei muscoli prossimali (che compromette la deambulazione), mialgia e affaticamento, associati ad ipercinesia infantile, atassia del tronco e disabilità intellettiva. Altri segni sono la scoliosi, la displasia delle anche e, raramente, i segni oculari (miopia, cataratta) e le crisi epilettiche."},"nl":{"name":"TRAPPC11-gerelateerde limb-girdle-spierdystrofie R18","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2S","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2S","Autosomaal recessieve limb-girdle-spierdystrofie type 2S","LGMD type 2S","LGMD2S","Limb-girdle-spierdystrofie type 2S","TRAPPC11-gerelateerde LGMD R18"],"definition":"Een vorm van limb-girdle-spierdystrofie, gekarakteriseerd door in de kindertijd aanvangende, progressieve, proximale spierzwakte (met als gevolg een verminderd stapvermogen) met myalgie en vermoeidheid, en daarnaast ook infantiele hyperkinetische bewegingen, rompataxie, en intellectuele achterstand. Bijkomende manifestaties zijn onder meer scoliose, dysplasie van heup, en minder vaak ook oculaire kenmerken (e.g. myopie, cataract) en insulten."},"pt":{"name":"Distrofia muscular das cinturas dos membros R18 TRAPPC11-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2S"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2S","synonyms":["LGMD2S"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2S","synonyms":["LGMD2S"]},"uk":{"name":"TRAPPC11-асоційована кінцівково-поясна мязова дистрофія R18","synonyms":["Автосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2S","LGMD тип 2S","LGMD2S","Мязова дистрофія мязів поясу кінцівок, тип 2S","LGMD R18, повязаний з TRAPPC11"],"definition":"A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures."},"zh":{"name":"TRAPPC11基因相关肢带肌营养不良症R18型","synonyms":["常染色体隐性遗传性肢带型肌营养不良2S型"],"definition":"本病是一种四肢带状肌营养不良，其特征是儿童期始出现进行性近端肌肉无力(导致行走能力减弱)，并伴有肌肉疼痛和疲劳，此外还有婴儿多动症、躯干共济失调和智力障碍。本病的其他表现包括脊柱侧弯、髋关节发育不良，以及较少见的眼部特征(如近视、白内障)和癫痫发作。"},"tr":{"name":"TRAPPC11-ilişkili ekstremite-kuşak kas distrofisi R18","synonyms":["LGMD2S","LGMD tip 2S","TRAPPC11-ilişkili LGMD R18","Ekstremite-kavşak tipi kas distrofisi tip 2S","Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2S"]}},"xrefs":[{"source":"OMIM","code":"615356","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4517996","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]}],"children":[],"genes":[{"symbol":"TRAPPC11","name":"trafficking protein particle complex subunit 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23830518[PMID]","hgnc":"25751","ensembl":"ENSG00000168538","omim":"614138","loci":["4q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23830518[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-05","source":"26322222[PMID]_23830518[PMID]_27862579[PMID]_27707803[PMID]","terms":[{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025313","label":"Exophoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Excluded (0%)","criteria":null}]}}