{"orpha":254361,"name":"Plectin-related limb-girdle muscular dystrophy R17","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2Q","LGMD type 2Q","LGMD2Q","Limb-girdle muscular dystrophy type 2Q","Plectin-related LGMD R17"],"definition":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254361/","orphanet_url":"https://www.orpha.net/en/disease/detail/254361","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la plectine R17","synonyms":["Dystrophie musculaire des ceintures type 2Q","Dystrophie musculaire des ceintures autosomique récessive type 2Q","LGMD liée à la plectine R17","LGMD type 2Q","LGMD2Q"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2Q (LGMD2Q) est une forme de dystrophie musculaire des ceintures caractérisée tôt dans l'enfance par une faiblesse musculaire proximale (avec des chutes occasionnelles et des difficultés pour monter des escaliers), et par une évolution progressive conduisant à une perte de l'ambulation tôt à l'âge adulte. Une atrophie musculaire et des contractures multiples ont aussi été rapportées dans de rares cas."},"de":{"name":"Plectin-assoziierte Gliedergürtelmuskeldystrophie R17","synonyms":["Gliedergürtelmuskeldystrophie Typ 2Q","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Q","LGMD Typ 2Q","LGMD2Q","Plectin-assoziiertes LGMD R17"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die durch eine proximale Muskelschwäche gekennzeichnet ist, die in der frühen Kindheit auftritt (mit gelegentlichen Stürzen und Schwierigkeiten beim Treppensteigen) und einen progressiven Verlauf hat, der zum Verlust der Gehfähigkeit im frühen Erwachsenenalter führt. In seltenen Fällen wurde auch über Muskelatrophie und multiple Kontrakturen berichtet."},"es":{"name":"Distrofia muscular de cinturas R17 asociada a plectina","synonyms":["Distrofia muscular de cinturas autosómica recesiva por deficiencia de plectina","Distrofia muscular de cinturas autosómica recesiva tipo 2Q","LGMD2Q"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por debilidad muscular proximal que se presenta en la infancia temprana (con caídas ocasionales y dificultades para subir escaleras) y un curso progresivo que resulta en una pérdida de la marcha en la edad adulta temprana. También se ha descrito atrofia muscular y múltiples contracturas en raras ocasiones."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2","synonyms":["Distrofia muscolare dei cingoli, autosomica recessiva, da deficit di plectina","LGMD2Q"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2Q (LGMD2Q) è una forma di distrofia muscolare dei cingoli caratterizzata da debolezza dei muscoli prossimali che esordisce nella prima infanzia con cadute occasionali e difficoltà nel salire le scale; il decorso è progressivo ed esita nella perdita della deambulazione nella prima età adulta. L'atrofia muscolare e le contratture sono rare."},"nl":{"name":"Plectine-gerelateerde limb-girdle-spierdystrofie R17","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Q","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Q","Autosomaal recessieve limb-girdle-spierdystrofie type 2Q","LGMD type 2Q","LGMD2Q","Limb-girdle-spierdystrofie type 2Q","Plectine-gerelateerde LGMD R17"],"definition":"Een vorm van limb-girdle-spierdystrofie gekarakteriseerd door proximale spierzwakte die zich presenteert in de vroege kindertijd (met occasioneel vallen en moeilijkheden bij het beklimmen van trappen) en een progressief verloop dat leidt tot verlies van loopvermogen in de vroege volwassenheid. In zeldzame gevallen werden ook spieratrofie en multipele contracturen gerapporteerd."},"pt":{"name":"Distrofia muscular das cinturas dos membros R17 plectina-relacionada","synonyms":["Distrofia muscular das cinturas dos membros por deficiência de plectina autossómica recessiva","LGMD2Q"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2Q","synonyms":["Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru plektyny","LGMD2Q"]},"cs":{"name":"Autozomálně recesivní svalová dystrofie končetinového pletence, typ 2Q","synonyms":["LGMD2Q","Autozomálně recesivní svalová dystrofie končetinového pletence způsobená deficitem plektinu"]},"uk":{"name":"Плектинова кінцівково-поясна мязова дистрофія R17","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Q","LGMD тип 2Q","LGMD2Q","Мязова дистрофія мязів поясу кінцівок, тип 2Q","LGMD R17, повязаний з плектином"],"definition":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases."},"zh":{"name":"网蛋白相关性R17型肢带型肌营养不良症","synonyms":["常染色体隐性遗传肢带型肌营养不良症2Q型"],"definition":"一种四肢带状肌肉营养不良症，特征是幼年时近端肌肉无力(偶尔摔倒，爬楼梯有困难)，成年后逐渐失去行走能力。肌肉萎缩和多发性挛缩在罕见病例中也有报道。"},"tr":{"name":"Plektin-ilişkili ekstremite-kuşak kas distrofisi R17","synonyms":["LGMD2Q","LGMD tip 2Q","Plectin-ilişkili LGMD R17","Ekstremite-kavşak tipi kas distrofisi tip 2Q","Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2Q"]}},"xrefs":[{"source":"OMIM","code":"613723","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150989","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":209196,"name":"Qualitative or quantitative defects of plectin","classifications":[156]}],"children":[],"genes":[{"symbol":"PLEC","name":"plectin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"9069","ensembl":"ENSG00000178209","omim":"601282","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"21109228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21109228[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-04","source":"22864774[PMID]_28447722[PMID]_28824526[PMID]_25556389[PMID]_21109228[PMID]","terms":[{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040287","label":"Axial muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430025","label":"Bilateral facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040266","label":"Proximal upper limb muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011950","label":"Bronchiolitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004631","label":"Decreased cervical spine flexion due to contractures of posterior cervical muscles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0030208","label":"Acetylcholine receptor antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}