{"orpha":206549,"name":"Anoctamin-5-related limb-girdle muscular dystrophy R12","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anoctamin-5-related LGMD R12","Autosomal recessive limb-girdle muscular dystrophy type 2L","LGMD type 2L","LGMD2L","Limb-girdle muscular dystrophy type 2L"],"definition":"A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206549/","orphanet_url":"https://www.orpha.net/en/disease/detail/206549","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à l'anoctamine-5 R12","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2L","Dystrophie musculaire des ceintures type 2L","LGMD liée à l'anoctamine-5 R12","LGMD type 2L","LGMD2L"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2L (LGMD2L) est une forme de dystrophie musculaire des ceintures caractérisée le plus souvent par une faiblesse proximale des membres inférieurs, l'un des signes initiaux étant des difficultés pour se mettre sur la pointe des pieds. La dystrophie survient à l'âge adulte, avec un étalement entre onze et cinquante et un ans. Une faiblesse des membres inférieurs distaux et des membres supérieurs proximaux est aussi observée fréquemment, ainsi qu'une atrophie des quadriceps (le plus souvent), des biceps brachiaux et des muscles du bas de la jambe. Certains cas présentent une hypertrophie du mollet. La LGMD2L progresse lentement. La plupart des patients restent ambulants jusqu'à la fin de l'âge adulte."},"de":{"name":"Anoctamin-5-assoziierte Gliedergürtelmuskeldystrophie R12","synonyms":["ANO5-assoziierte LGMD R12","Gliedergürtelmuskeldystrophie Typ 2L","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2L","LGMD Typ 2L","LGMD2L"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die zumeist im Erwachsenenalter beginnt (Manifestationsalter zwischen 11 und 51 Jahren) und mit hauptsächlich proximaler Schwäche der unteren Gliedmaßen einhergeht, wobei Schwierigkeiten beim Stehen auf den Zehenspitzen eines der ersten Anzeichen sind. Häufig zeigt sich eine proximale Schwäche der oberen und distalen unteren Gliedmaßen und ebenfalls eine Atrophie des Quadrizeps (am häufigsten), des Biceps brachii und der Unterschenkelmuskeln. In einigen Fällen wurde auch über eine Wadenhypertrophie berichtet. Die LGMD2L schreitet langsam voran, wobei die meisten Patienten bis ins späte Erwachsenenalter gehfähig bleiben."},"es":{"name":"Distrofia muscular de cinturas R12 asociada a anoctamina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2L","LGMD2L"],"definition":"Es una forma de distrofia muscular de cinturas que se caracteriza por un inicio en la edad adulta (aunque oscila desde los 11 hasta los 51 años de edad), presentándose con debilidad proximal de las extremidades inferiores, siendo la dificultad para permanecer de puntillas uno de los rasgos iniciales. Asimismo, es común la presencia de debilidad distal de las extremidades inferiores y debilidad proximal de las extremidades superiores, así como la atrofia de los cuádriceps (más frecuentemente), bíceps braqualis y músculos de las extremidades inferiores. También se ha descrito hipertrofia de gemelos. La LGMD2L evoluciona lentamente, manteniendo la mayoría de los afectados la demabulación hasta la edad adulta tardía."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva, tipo 2L","synonyms":["LGMD2L"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2L (LGMD2L) è una forma di distrofia muscolare dei cingoli che esordisce soprattutto nell'età adulta (tra 11 e 51 anni), con debolezza prevalentemente prossimale degli arti inferiori e difficoltà a stare sulla punta di piedi nella fase iniziale della malattia. Sono comuni anche la debolezza prossimale degli arti superiori e la debolezza distale degli arti inferiori, l'atrofia dei quadricipiti (il segno clinico più comune), dei bicipiti e dei muscoli della parte inferiore delle gambe. In alcuni casi i polpacci sono ipertrofici. La LGMD2L progredisce lentamente e la maggior parte dei pazienti mantiene la capacità di camminare fino alla tarda età adulta."},"nl":{"name":"Anoctamine-5-gerelateerde limb-girdle-spierdystrofie R12","synonyms":["Anoctamine-5-gerelateerde LGMD R12","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2L","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2L","Autosomaal recessieve limb-girdle-spierdystrofie type 2L","LGMD type 2L","LGMD2L","Limb-girdle-spierdystrofie type 2L"],"definition":"Een vorm van limb-girdle-spierdystrofie doorgaans gekarakteriseerd door aanvang in de volwassenheid (maar gaande van 11 tot 51 jaar) van zwakte van voornamelijk proximale onderste ledematen, waarvan moeilijkheden om op de tippen van de tenen te staan één van de initiële verschijnselen is. Zwakte van proximale bovenste ledematen en distale onderste ledematen komt ook vaak voor, net als atrofie van quadriceps (meest gangbaar), musculus biceps brachii, en spieren van de onderbenen. In enkele gevallen werd ook hypertrofie van kuit gerapporteerd. LGMD2L heeft een trage progressie, en de meeste patiënten behouden hun loopvermogen tot in de late volwassenheid."},"pt":{"name":"Distrofia muscular das cinturas dos membros R12 anoctamina-5-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2L"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2L","synonyms":["LGMD2L"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2L","synonyms":["LGMD2L"]},"uk":{"name":"Анооктамін-5-асоційована мязова дистрофія скелетних мязів кінцівок R12","synonyms":["LGMD R12, повязаний з анооктамін-5","Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2L","LGMD тип 2L","LGMD2L","Мязова дистрофія мязів поясу кінцівок, тип 2L"],"definition":"A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood."},"zh":{"name":"Anoctamin-5蛋白相关的肢带肌萎缩症R12型","synonyms":["常染色体隐性遗传肢带型肌营养不良2L型"],"definition":"Anoctamin5基因相关肢带肌营养不良症R12是一种肢带肌营养不良症，其主要表现为下肢近端肌无力，踮脚困难是最早出现的症状之一。上肢近端和下肢远端肌无力也很常见，还可表现为股四头肌萎缩（最常见）、肱二头肌萎缩和小腿肌肉萎缩，少数患者出现小腿肥大，多发生于成人（11-51岁）。LGMD2L进展缓慢，大多数患者在晚期仍可保持活动状态。"},"tr":{"name":"Anoktamin-5 -ilişkili ekstremite kavşak tip kas distrofisi R12","synonyms":["LGMD2L","LGMD tipi 2L","Anoktamin-5-ilişkili LGMD R12","Ekstremite-kavşak tipi kas distrofisi tip 2L","Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2L"]}},"xrefs":[{"source":"OMIM","code":"611307","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012652","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969785","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":207122,"name":"Qualitative or quantitative defects of fukutin","classifications":[156]}],"children":[],"genes":[{"symbol":"ANO5","name":"anoctamin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"27337","ensembl":"ENSG00000171714","omim":"608662","loci":["11p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23670307[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-31","source":"17008331[PMID]_23193613[PMID]_17008331[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001430","label":"Abnormality of the calf musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003482","label":"EMG: axonal abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003730","label":"EMG: myotonic runs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100297","label":"Increased endomysial connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031237","label":"Internally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003555","label":"Muscle fiber splitting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008988","label":"Pelvic girdle muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009050","label":"Quadriceps muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003089","label":"Hamstring contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null}]}}