{"orpha":352479,"name":"ISPD-related limb-girdle muscular dystrophy R20","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Limb-girdle muscular dystrophy type 2U","Autosomal recessive limb-girdle muscular dystrophy type 2U","ISPD-related LGMD R20","LGMD type 2U","LGMD2U"],"definition":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352479/","orphanet_url":"https://www.orpha.net/en/disease/detail/352479","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à ISPD R20","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2U","Dystrophie musculaire des ceintures type 2U","LGMD associée à ISPD R20","LGMD type 2U","LGMD2U"],"definition":"Sous-type rare de dystrophie musculaire des ceintures autosomique récessive caractérisé par l'apparition, pendant la petite enfance ou l'enfance, d'une faiblesse musculaire des ceintures pelvienne et/ou scapulaire, principalement proximale et à progression lente, se manifestant généralement par un signe de Gowers positif. Sont associés des taux élevés de créatine kinase, une hyporéflexie, des contractures des articulations et du tendon d'Achille et une hypertrophie musculaire (généralement des cuisses, des chevilles et/ou de la langue). Les autres manifestations, très inconstantes, comprennent des anomalies cérébelleuses, cardiaques et oculaires."},"de":{"name":"ISPD-assoziierte Gliedergürtelmuskeldystrophie R20","synonyms":["Gliedergürtelmuskeldystrophie Typ 2U","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2U","ISPD-assoziierte LGMD R20","LGMD Typ 2U","LGMD2U"]},"es":{"name":"Distrofia muscular de cinturas R20 asociada al gen ISPD","synonyms":["Distrofia muscular de cinturas autosómica recesiva por deficiencia de ISPD","Distrofia muscular de cinturas autosómica recesiva tipo 2U","LGMD2U"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva poco frecuente. Está caracterizada por debilidad muscular del hombro y/o cintura pélvica, principalmente proximal y de progresión lenta de inicio en la lactancia o en la infancia y que, por lo general, se presenta con signo de Gowers positivo y asocia niveles elevados de creatinquinasa, hiporreflexia, contracturas articulares y aquileas e hipertrofia muscular, más comúnmente, de los muslos, pantorrillas y/o lengua. Esta enfermedad puede presentar otros hallazgos altamente variables que incluyen anomalías cerebelosas, cardíacas y oculares."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva tipo 2U","synonyms":["Distrofia muscolare dei cingoli autosomica recessiva, tipo 2U","LGMD2U"],"definition":"È un sottotipo raro di distrofia muscolare dei cingoli autosomica recessiva, che esordisce nel periodo neonatale o durante l'infanzia con debolezza muscolare, prevalentemente prossimale e a progressione lenta, dei cingoli della spalla e/o della pelvi. Di solito la malattia esordisce con il segno di Gowers e si associa a livelli elevati di creatina chinasi, iporeflessia, contratture delle articolazioni e del tendine d'Achille e ipertrofia muscolare, in genere a livello delle cosce, dei polpacci e/o della lingua. Altri segni clinici molto variabili sono le anomalie cerebellari, cardiache e oculari."},"nl":{"name":"ISPD-gerelateerde limb-girdle-spierdystrofie R20","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2U","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2U","Autosomaal recessieve limb-girdle-spierdystrofie type 2U","ISPD-gerelateerde LGMD R20","LGMD type 2U","LGMD2U","Limb-girdle musculaire dystrofie type 2U"],"definition":"Een zeldzaam subtype van autosomaal recessieve limb-girdle-spierdystrofie gekarakteriseerd door aanvang in de zuigelingen- tot kindertijd van traag progressieve zwakte van voornamelijk proximale spieren van schouder- en/of bekkengordel, die zich doorgaans presenteert met positief teken van Gowers en geassocieerd is met verhoogde creatinekinasegehaltes, hyporeflexie, contracturen van gewrichten en achillespees, en hypertrofie van spieren, meestal van dijen, kuiten en/of tong. Overige, zeer variabele kenmerken zijn onder meer cerebellaire, cardiale en oculaire afwijkingen."},"pt":{"name":"Distrofia muscular das cinturas dos membros R20 ISPD-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autosómica recessiva por deficiência de ISPD"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru ISPD","synonyms":["Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2U","LGMD2U"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2U","synonyms":["LGMD2U","Autozomálné recesivní pletencová svalová dystrofie způsobená deficitem ISPD"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія R20, повязана з ISPD","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2U","LGMD R20, повязаний з ISPD","LGMD тип 2U","LGMD2U","Мязова дистрофія мязів поясу кінцівок, тип 2U"],"definition":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities."},"zh":{"name":"ISPD基因相关肢带型肌营养不良R20","synonyms":["常染色体隐性遗传肢带型肌营养不良2U型"],"definition":"一种罕见的常染色体隐性肢带肌营养不良症，其特征是从婴儿到儿童期开始缓慢进行性发病，主要是近端肩带和/或骨盆带肌无力，通常表现为Gowers阳性，伴有肌酸激酶水平升高、反射低下，关节和跟腱挛缩，肌肉（通常是大腿、小腿和/或舌头）肥大。其他特征包括小脑、心脏和眼部异常。"},"tr":{"name":"ISPD-ilişkili ekstremite-kuşak kas distrofisi R20","synonyms":["LGMD2U","LGMD tipi 2U","ISPD-ilişkili LGMD R20","Ekstremite-kavşak tipi kas distrofisi tip 2U","Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2U"]}},"xrefs":[{"source":"OMIM","code":"616052","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":352482,"name":"OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement","status":"inactive"}],"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":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"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":[{"symbol":"CRPPA","name":"CDP-L-ribitol pyrophosphorylase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23288328[PMID]","hgnc":"37276","ensembl":"ENSG00000214960","omim":"614631","loci":["7p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23288328[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":"2019-03-05","source":"26810373[PMID]_23390185[PMID]","terms":[{"hpo":"HP:0030046","label":"Hypoglycosylation of alpha-dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030234","label":"Highly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008305","label":"Exercise-induced myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null}]}}