{"orpha":86812,"name":"POMT1-related limb-girdle muscular dystrophy R11","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2K","LGMD type 2K","LGMD2K","Limb-girdle muscular dystrophy type 2K","Limb-girdle muscular dystrophy-intellectual disability syndrome","POMT1-related LGMD R11"],"definition":"A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86812/","orphanet_url":"https://www.orpha.net/en/disease/detail/86812","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à POMT1 R11","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2K","Dystrophie musculaire des ceintures type 2K","LGMD associée à POMT1 R11","LGMD type 2K","LGMD2K","Syndrome de dystrophie musculaire des ceintures-déficience intellectuelle"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2K (LGMD2K) est une forme de dystrophie musculaire des ceintures caractérisée par faiblesse musculaire proximale lentement progressive apparaissant pendant l'enfance (s'accompagnant d'une fatigue et de difficultés pour courir et monter les escaliers) et par un retard du développement. Tous les patients présentent un déficit intellectuel léger et une microcéphalie, sans anomalie cérébrale structurelle visible. Une légère pseudo-hypertrophie est aussi rapportée, ainsi que des contractures articulaires au niveau des chevilles."},"de":{"name":"POMT1-assoziierte Gliedergürtelmuskeldystrophie R11","synonyms":["LGMD Typ 2K","LGMD2K","POMT1-assoziierte LGMD R11","Gliedergürtelmuskeldystrophie Typ 2K","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2K","Gliedergürtelmuskeldystrophie-Intelligenzminderung-Syndrom"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die durch das Auftreten einer langsam fortschreitenden proximalen Muskelschwäche in der Kindheit (mit Müdigkeit und Schwierigkeiten beim Laufen und Treppensteigen) und einer Entwicklungsverzögerung gekennzeichnet ist. Mildes intellektuelles Defizit und Mikrozephalie, ohne offensichtliche strukturelle Hirnanomalien, werden bei allen Patienten gefunden. Eine milde Pseudohypertrophie und Gelenkkontrakturen der Knöchel wurden ebenfalls berichtet."},"es":{"name":"Distrofia muscular de cinturas R11 asociada a POMT1","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2K","Distrofia muscular de cinturas tipo 2K","LGMD R11 asociada a POMT1","LGMD tipo 2K","LGMD2K","Síndrome de distrofia muscular de cinturas-discapacidad intelectual"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por la aparición en la infancia de debilidad muscular proximal lentamente progresiva (con cansancio y dificultad para correr y subir escaleras) y retraso psicomotor. En todos los pacientes se ha observado una leve discapacidad intelectual y microcefalia, sin clara evidencia de ninguna anomalía cerebral estructural. También se han descrito una ligera pseudohipertrofia y contracturas aquíleas."},"it":{"name":"Distrofia muscolare dei cingoli R11 correlata a POMT1","synonyms":["Sindrome distrofia muscolare dei cingoli-disabilità intellettiva","Distrofia muscolare dei cingoli tipo 2K","Distrofia muscolare dei cingoli autosomica recessiva tipo 2K","LGMD2K","LGMD tipo 2K","LGMD R11 correlata a POMT1"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2K (LGMD2K) è una forma di distrofia muscolare dei cingoli caratterizzata da debolezza dei muscoli prossimali a progressione lenta che esordisce durante l'infanzia (con affaticamento e difficoltà nel correre e nel salire le scale), associata a ritardo dello sviluppo. Tutti i pazienti presentano un lieve deficit intellettivo e microcefalia, senza evidenti anomalie cerebrali di struttura. Possono essere presenti modesta pseudoipertrofia dei muscoli e contratture articolari a livello delle caviglie."},"nl":{"name":"POMT1-gerelateerde limb-girdle-spierdystrofie R11","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2K","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2K","Autosomaal recessieve limb-girdle-spierdystrofie type 2K","LGMD type 2K","LGMD2K","Limb-girdle-spierdystrofie - intellectuele achterstand-syndroom","Limb-girdle-spierdystrofie type 2K","POMT1-gerelateerde LGMD R11"],"definition":"Een vorm van limb-girdle-spierdystrofie, gekarakteriseerd door aanvang van traag progressieve proximale spierzwakte in de kindertijd (met vermoeidheid en moeilijkheden met lopen en het beklimmen van trappen) en ontwikkelingsachterstand. Bij alle patiënten worden milde intellectuele beperking en microcefalie aangetroffen, zonder enige duidelijke structurele afwijking van de hersenen. Milde pseudohypertrofie en gewrichtscontracturen van de enkels werden ook reeds gerapporteerd."},"pt":{"name":"Distrofia muscular das cinturas dos membros R11 POMT1-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2K","Distrofia muscular das cinturas dos membros tipo 2K","LGMD R11 POMT1-relacionada","LGMD tipo 2K","LGMD2K","Síndrome de istrofia muscular das cinturas dos membros-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Autosomalna recesywna dystrofia mięśniowa obręczowo-kończynowa typu 2K","synonyms":["Dystrofia obręczowo-kończynowa- niepełnosprawność intelektualna","LGMD2K"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2K","synonyms":["LGMD2K","Syndrom zahrnující pletencovou svalovou dystrofii a mentální retardaci"]},"uk":{"name":"POMT1-асоційована кінцівково-поясна мязова дистрофія R11","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2К","LGMD тип 2K","LGMD2K","Мязова дистрофія скелетних мязів кінцівок, тип 2К","Синдром мязової дистрофії опорно-рухового апарату та інтелектуальної недостатності","LGMD R11, повязаний з POMT1"],"definition":"A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."},"zh":{"name":"POMT1相关肢带肌营养不良R11型","synonyms":["肢带型肌营养不良-智力障碍综合征"]},"tr":{"name":"POMT1-ilişkili ekstremite-kavşak tipi kas distrofisi R11","synonyms":["LGMD2K","LGMD tipi 2K","POMT1-ilgili LGMD R11","Ekstremite-kavşak tipi kas distrofisi tip 2K","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2K","Ekstremite-kavşak tipi kas distrofisi-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"609308","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},{"source":"MONDO","code":"0012248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836373","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":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":209030,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 1","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POMT1","name":"protein O-mannosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"9202","ensembl":"ENSG00000130714","omim":"607423","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-16","source":"14678799[PMID]_20065251[PMID]_22549409[PMID]","terms":[{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003733","label":"Thigh hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null}]}}