{"orpha":267,"name":"Calpain-3-related limb-girdle muscular dystrophy R1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2A","Calpain-3-related LGMD R1","LGMD type 2A","LGMD2A","Limb-girdle muscular dystrophy due to calpain deficiency","Limb-girdle muscular dystrophy type 2A","Primary calpainopathy"],"definition":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-267/","orphanet_url":"https://www.orpha.net/en/disease/detail/267","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la calpaïne-3 R1","synonyms":["Calpaïnopathie primaire","Dystrophie musculaire des ceintures autosomique récessive type 2A","Dystrophie musculaire des ceintures par déficit en calpaïne","Dystrophie musculaire des ceintures type 2A","LGMD liée à la calpaïne-3 R1","LGMD type 2A","LGMD2A"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2A (LGMD2A) est un sous-type de dystrophie musculaire des ceintures autosomique récessive, survenant à des âges divers. Elle se caractérise par une faiblesse progressive, habituellement symétrique et sélective, et une atrophie des muscles proximaux des ceintures scapulaire et pelvienne, sans atteinte faciale ou cardiaque. Le muscle grand fessier, les adducteurs des cuisses et les muscles du compartiment postérieur des membres sont les plus fréquemment touchés. Les manifestations cliniques incluent une intolérance à l'exercice, une démarche dandinante, une scapula ailée et une pseudo-hypertrophie des mollets."},"de":{"name":"Calpain-3-assoziierte Gliedergürtelmuskeldystrophie R1","synonyms":["Calpain-3-assoziierte LGMD R1","Calpainopathie, primäre","Gliedergürtelmuskeldystrophie Typ 2A","Gliedergürtelmuskeldystrophie durch Calpain-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2A","LGMD Typ 2A","LGMD durch Calpain-3-Defizienz","LGMD2A"],"definition":"Eine seltene Unterform der autosomal-dominanten Gliedergürtel-Muskeldystrophie mit variablem Erkrankungsalter. Sie ist gekennzeichnet durch progressive, typischerweise symmetrische und selektive Schwäche und Atrophie der proximalen Schulter- und Beckengürtelmuskulatur (am häufigsten sind der Gluteus maximus, die Oberschenkeladduktoren und die Muskeln des hinteren Kompartiments der Gliedmaßen betroffen), ohne dass eine kardiale oder faziale Beteiligung vorliegt. Zu den klinischen Manifestationen gehören Bewegungsunverträglichkeit, ein watschelnder Gang, Scapula alata und eine Pseudohypertrophie der Waden."},"es":{"name":"Distrofia muscular de cinturas R1 asociada a calpaína 3","synonyms":["Calpainopatía primaria","Distrofia muscular de cinturas autosómica recesiva tipo 2A","Distrofia muscular de cinturas por deficiencia de calpaína","LGMD2A"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva con una edad de inicio variable y caracterizado por debilidad progresiva, típicamente simétrica y selectiva y atrofia de los músculos proximales de la cintura pélvica y escapular (el glúteo mayor, los aductores del muslo y los músculos del compartimento posterior de las extremidades son los más afectados) sin afectación cardíaca o facial. Las manifestaciones clínicas incluyen intolerancia al ejercicio, marcha anadeante, escápula alada y pseudo-hipertrofia gemelar."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2A","synonyms":["Calpainopatia primitiva","Distrofia musculare dei cingoli da deficit di calpaina","LGMD2A"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2A (LGMD2A) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia progressiva, di solito simmetrica e selettiva, dei muscoli prossimali dei cingoli pelvici e della spalla (in particolare il grande gluteo, gli adduttori della coscia e i muscoli della porzione posteriore degli arti), senza interessamento cardiaco o facciale; l'età di esordio è variabile. I segni clinici comprendono l'intolleranza all'esercizio fisico, l'andatura a base allargata, le scapole alate e la pseudoipertrofia dei polpacci."},"nl":{"name":"Calpaïne-3-gerelateerde limb-girdle-spierdystrofie R1","synonyms":["Calpaïne-3-gerelateerde LGMD R1","LGMD door calpaïnedeficiëntie","LGMD type 2A","LGMD2A","Limb-girdle-spierdystrofie door calpaïnedeficiëntie","Limb-girdle-spierdystrofie type 2A","Primaire calpaïnopathie","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2A","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2A","Autosomaal recessieve limb-girdle-spierdystrofie type 2A"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door een aanvang op variabele leeftijd van progressieve, doorgaans symmetrische en selectieve zwakte en atrofie van proximale spieren van de bekken- en schoudergordels (musculus gluteus maximus (grote bilspier), adductoren van dij, en spieren in de achterste compartimenten van ledematen worden het meest getroffen), zonder betrokkenheid van hart of gelaat. Klinische manifestaties zijn onder meer inspanningsintolerantie, een waggelende gang, afstaande schouderbladen en pseudohypertrofie van kuit."},"pt":{"name":"Distrofia muscular das cinturas dos membros R1 calpaina-3-relacionada","synonyms":["Calpainopatia primária","Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2A","Distrofia muscular das cinturas dos membros por deficiência de calpaina"]},"pl":{"name":"Autosomalna recessywna dystrofia obręczowo-kończynowa typu 2A","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru kalpainy","Kalpainopatia pierwotna","LGMD2A"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2A","synonyms":["LGMD2A","Pletencová svalová dystrofie zpusobená deficitem kalpainu","Primární kalpainopatie","Pletencová svalová dystrofie způsobená deficitem kalpainu"]},"uk":{"name":"Кальпаїн-3-залежна кінцівково-поясна м’язова дистрофія R1","synonyms":["Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2А","LGMD R1, повязаний з кальпаїном-3","LGMD тип 2A","LGMD2A","Мязова дистрофія мязів поясу кінцівок внаслідок дефіциту кальпаїну","Мязова дистрофія мязів поясу кінцівок, тип 2А","Первинна кальпаїнопатія"],"definition":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy."},"zh":{"name":"钙蛋白酶3相关肢带肌营养不良","synonyms":["常染色体隐性肢带肌营养不良2A型"]},"tr":{"name":"Kalpain-3--ilişkili ekstremite kavşak tip kas distrofisi R1","synonyms":["LGMD2A","LGMD tip 2A","Primer kalpainopati","Kalpain-3-ilgili LGMD R1","Ekstremite kavşak tip kas distrofilsi tip 2A","Kalpain eksikliğine bağlı ekstremite-kuşak kas distrofisi","Otozomal Çekinik ekstremite-kuşak kas distrofisi tip 2A"]}},"xrefs":[{"source":"OMIM","code":"253600","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":"index","validated":true,"icd11_uri":"522700832"},{"source":"MONDO","code":"0009675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1869123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1057","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":207104,"name":"Qualitative or quantitative defects of calpain","classifications":[156]}],"children":[],"genes":[{"symbol":"CAPN3","name":"calpain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"1480","ensembl":"ENSG00000092529","omim":"114240","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2006[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Reunion","status":"Validated","source":"8624690[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.65,"area":"Italy","status":"Not yet validated","source":"ORPHANET_15725583[PMID]_16141003[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-16","source":"15694138[PMID]_10069710[PMID]_19364062[PMID]","terms":[{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003089","label":"Hamstring contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012037","label":"Pectoralis amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008946","label":"Pelvic girdle amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009060","label":"Scapular muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null}]}}