{"orpha":280333,"name":"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-dystroglycan-related LGMD R16","Autosomal recessive limb-girdle muscular dystrophy type 2P","LGMD type 2P","LGMD2P","Limb-girdle muscular dystrophy type 2P"],"definition":"A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280333/","orphanet_url":"https://www.orpha.net/en/disease/detail/280333","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à l'alpha dystroglycane R16","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2P","Dystrophie musculaire des ceintures type 2P","LGMD liée à l'alpha dystroglycane R16","LGMD type 2P","LGMD2P"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2P (LGMD2P) est une forme de dystrophie musculaire des ceintures caractérisée par une faiblesse musculaire surtout proximale, lentement progressive et survenant au début de l'enfance (avec des difficultés pour marcher et monter des escaliers), ainsi qu'un déficit intellectuel léger à sévère. Les signes additionnels rapportés incluent une microcéphalie, une légère augmentation de la taille des muscles des cuisses ou des mollets, et des contractures au niveau des chevilles."},"de":{"name":"Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16","synonyms":["Alpha-Dystroglycan-assoziierte LGMD R16","Gliedergürtelmuskeldystrophie Typ 2P","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2P","LGMD Typ 2P","LGMD2P"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die durch eine langsam fortschreitende, hauptsächlich proximale Muskelschwäche, die in der frühen Kindheit auftritt (mit Schwierigkeiten beim Gehen und Treppensteigen) und einer leichten bis schweren Intelligenzminderung gekennzeichnet ist. Als zusätzliche Manifestationen werden Mikrozephalie, leichte Zunahme der Oberschenkel- oder Wadenmuskulatur und Kontrakturen der Knöchel berichtet."},"es":{"name":"Distrofia muscular de cinturas R16 asociada a alfa-distroglicano","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2P","LGMD2P"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por debilidad muscular, fundamentalmente proximal, lentamente progresiva presente en la infancia temprana (con dificultades para caminar y subir escaleras) y discapacidad intelectual de leve a grave. Las manifestaciones adicionales descritas incluyen microcefalia, leve aumento del volumen de los músculos de muslos o gemelos, y contracturas de los tobillos."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva, tipo 2P","synonyms":["LGMD2P"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2P (LGMD2P) è una forma di distrofia muscolare dei cingoli caratterizzata da debolezza muscolare prevalentemente prossimale, a progressione lenta, che esordisce nella prima infanzia con difficoltà nella deambulazione e nel salire le scale; si associa a disabilità intellettiva lieve o grave. Altri segni clinici sono la microcefalia, la lieve ipertrofia dei muscoli della coscia o del polpaccio e le contratture delle caviglie."},"nl":{"name":"Alfa-dystroglycaan-gerelateerde limb-girdle-spierdystrofie R16","synonyms":["Alfa-dystroglycaan-gerelateerde LGMD R16","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2P","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2P","Autosomaal recessieve limb-girdle-spierdystrofie type 2P","LGMD type 2P","LGMD2P","Limb-girdle-spierdystrofie type 2P"],"definition":"Een vorm van limb-girdle-spierdystrofie gekarakteriseerd door traag progressieve, voornamelijk proximale, spierzwakte die zich presenteert in de vroege kindertijd (met moeilijkheden bij het stappen en het beklimmen van trappen) en milde tot ernstige intellectuele achterstand. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer microcefalie, milde toename van dij- of kuitspieren, en contracturen van de enkels."},"pt":{"name":"Distrofia muscular das cinturas dos membros R16 alfa-distroglicano-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva-distroglicanopatia tipo C7","MDDGC7"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2P","synonyms":["LGMD2P"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2P","synonyms":["LGMD2P"]},"uk":{"name":"Альфа-дистроглікан-залежна кінцівково-поясна мязова дистрофія R16","synonyms":["Альфа-дистроглікан-залежний LGMD R16","Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Р","LGMD тип 2P","LGMD2P","Мязова дистрофія скелетних мязів кінцівок, тип 2Р"],"definition":"A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."},"zh":{"name":"肢带型肌营养不良-抗肌萎缩相关糖蛋白病类型C9","synonyms":["常染色体隐性遗传2P型肢带型肌营养不良"],"definition":"α-肌营养不良蛋白聚糖相关的肢带肌营养不良是一种肢带型肌营养不良，其特征是儿童早期出现缓慢进行近端肌无力（行走和爬楼梯困难）和轻度至重度智力残疾。其他表现包括小头畸形、大腿或小腿肌肉轻度增加和脚踝挛缩。"},"tr":{"name":"Alfa-distroglikan-ilişkili ekstremite-kuşak kas distrofisi R16","synonyms":["LGMD2P","LGMD tip 2P","Alfa-distroglikan-ilişkili LGMD R16","Ekstremite-kuşak kas distrofisi tip 2P","Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2P"]}},"xrefs":[{"source":"OMIM","code":"613818","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511963","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":371040,"name":"Primary qualitative or quantitative defects of alpha-dystroglycan","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DAG1","name":"dystroglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14678799[PMID]_21388311[PMID]","hgnc":"2666","ensembl":"ENSG00000173402","omim":"128239","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"14678799[PMID]_21388311[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21388311[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-18","source":"22677325[PMID]_25503980[PMID]_14678799[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030099","label":"Reduced muscle fiber alpha dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null}]}}