{"orpha":34515,"name":"FKRP-related limb-girdle muscular dystrophy R9","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2I","FKRP-related LGMD R9","LGMD due to FKRP deficiency","LGMD type 2I","LGMD2I","Limb-girdle muscular dystrophy due to FKRP deficiency","Limb-girdle muscular dystrophy type 2I"],"definition":"A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34515/","orphanet_url":"https://www.orpha.net/en/disease/detail/34515","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à FKRP R9","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2I","Dystrophie musculaire des ceintures par déficit en FKRP","Dystrophie musculaire des ceintures type 2I","LGMD associée à FKRP R9","LGMD par déficit en FKRP","LGMD type 2I","LGMD2I"],"definition":"Forme de dystrophie musculaire des ceintures autosomique récessive dont l'âge de début et le spectre phénotypique sont très variables. La maladie est généralement caractérisée par une faiblesse proximale à progression lente de la musculature des ceintures pelvienne et scapulaire (touchant principalement les membres inférieurs), fréquemment associée à une démarche dandinante, un décollement des omoplates (scapula alata), une hypertrophie du mollet et de la langue, une myalgie induite par l'effort, une faiblesse des muscles de l'abdomen, une cardiomyopathie, une atteinte des muscles respiratoires et une myoglobinurie et/ou des taux élevés de créatinine kinase sérique."},"de":{"name":"FKRP-assoziierte Gliedergürtelmuskeldystrophie R9","synonyms":["FKRP-assoziierte LGMD R9","Gliedergürtelmuskeldystrophie Typ 2I","Gliedergürtelmuskeldystrophie durch Fukutin-verwandtes Protein-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2I","LGMD Typ 2I","LGMD durch FKRP-Defizienz","LGMD2I"],"definition":"Ein Subtyp der autosomal-rezessiv vererbten Gliedergürtel-Muskeldystrophie mit sehr variablem Erkrankungsalter. Das phänotypischem Spektrum umfasst typischerweise eine langsam fortschreitende proximale Schwäche der Becken- und Schultergürtelmuskulatur (vorwiegend an den unteren Gliedmaßen), häufig verbunden mit Watschelgang, Scapula alata, Waden- und Zungenhypertrophie, belastungsinduzierter Myalgie und Myoglobinurie und/oder erhöhten Kreatinkinase-Serumspiegel. Weitere Manifestationen sind abdominale Muskelschwäche, Kardiomyopathie und Beteiligung der Atemmuskulatur."},"es":{"name":"Distrofia muscular de cinturas R9 asociada a FKRP","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2I","Distrofia muscular de cinturas por deficiencia de FKRP","LGMD2I"],"definition":"Es una forma de distrofia muscular de cinturas autosómica recesiva, con una edad de inicio y un espectro fenotípico muy variables. Típicamente, se caracteriza por debilidad proximal de la musculatura de la pelvis y de la cintura escapular (que afecta predominantemente a las extremidades inferiores) lentamente progresiva, frecuentemente asociada con marcha anadeante, aleteo escapular, hipertrofia de pantorrillas, macroglosia, mialgias inducida por el ejercicio, debilidad muscular abdominal, cardiomiopatía, afectación de los músculos respiratorios y mioglobinuria y/o niveles elevados de creatinquinasa en suero."},"it":{"name":"Distrofia muscolare dei cingoli correlata a FKRP R9","synonyms":["Atrofia muscolare dei cingoli da deficit di FKRP","LGMD2I"],"definition":"La distrofia muscolare dei cingoli correlata a FKRP R9 (LGMDR9) è una forma di distrofia muscolare dei cingoli autosomica recessiva, caratterizzata da un'età d'esordio molto variabile e da un fenotipo che comprende la debolezza a progressione lenta dei muscoli prossimali del bacino e dei cingoli della spalla (che interessa per lo più gli arti inferiori), spesso associata ad andatura a base allargata, scapole alate, ipertrofia dei polpacci e della lingua, mialgia indotta dall'esercizio fisico, debolezza dei muscoli addominali, cardiomiopatia, coinvolgimento dei muscoli respiratori, mioglobinuria e/o livelli elevati della creatin-chinasi nel siero."},"nl":{"name":"FKRP-gerelateerde limb-girdle-spierdystrofie R9","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2I","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2I","Autosomaal recessieve limb-girdle-spierdystrofie type 2I","FKRP-gerelateerde LGMD R9","LGMD door FKRP-deficiëntie","LGMD type 2I","LGMD2I","Limb-girdle-spierdystrofie door FKRP-deficiëntie","Limb-girdle-spierdystrofie type 2I"],"definition":"Een vorm van autosomaal recessieve limb-girdle-spierdystrofie met een zeer variabele aanvangsleeftijd en een breed fenotypisch spectrum dat doorgaans gekenmerkt wordt door progressieve zwakte van proximale spieren van bekken- en schoudergordel (vooral met aantasting van onderste ledematen), vaak geassocieerd met waggelende gang, afstaande schouderbladen, hypertrofie van kuit en tong, inspanningsgeïnduceerde myalgie, zwakte van buikspieren, cardiomyopathie, betrokkenheid van ademhalingsspieren, en myoglobinurie en/of verhoogd gehalte van creatinekinase in serum."},"pt":{"name":"Distrofia muscular das cinturas R9 FKRP-relacionada","synonyms":["Distrofia muscular das cinturas autossómica recessiva tipo 2I","Distrofia muscular das cinturas por deficiência de FKRP"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2I","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru FKRP","LGMD2I"],"definition":"Dystrofia obręczowo-kończynowa o dziedziczeniu autosomalnym recesywnym, charakteryzująca się bardzo zmiennym wiekiem zachorowania i spektrum fenotypowym, w której dochodzi do powoli postępującego osłabienia mięśni miednicy i obręczy barkowej (objawy są bardziej nasilone w kończynach dolnych). Często obserwuje się kołyszący chód, odstawanie łopatek, przerost łydek i języka, ból mięśni po wysiłku, osłabienie mięśni brzucha, kardiomiopatię, zajęcie mięśni oddechowych i mioglobinurię i/lub podwyższone stężenie kinazy kreatynowej w surowicy."},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2I","synonyms":["LGMD2I","Pletencová svalová dystrofie na podkladě deficitu FKRP"]},"uk":{"name":"Мязова дистрофія скелетних мязів кінцівок, повязана з FKRP, R9","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2I","LGMD R9, повязаний з ФКРП","LGMD внаслідок дефіциту ФКРП","LGMD тип 2I","LGMD2I","Мязова дистрофія скелетних мязів кінцівок, спричинена дефіцитом FKRP","Мязова дистрофія мязів поясу кінцівок, тип 2I"],"definition":"A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels."},"zh":{"name":"FKRP相关肢带肌营养不良R9型","synonyms":["常染色体隐性遗传肢带肌营养不良症2I型"]},"tr":{"name":"FKRP-ilişkili ekstremite-kavşak tipi kas distrofisi R9","synonyms":["LGMD2I","LGMD tip 2I","FKRP-ilişkili LGMD R9","FKRP eksikliği nedeniyle LGMD","Ekstremite-kavşak tipi kas distrofisi tip 2I","FKRP eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2I"]}},"xrefs":[{"source":"OMIM","code":"607155","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":"1951243194"},{"source":"MONDO","code":"0011787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846672","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12533","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":207119,"name":"Qualitative or quantitative defects of FKRP","classifications":[156]}],"children":[],"genes":[{"symbol":"FKRP","name":"fukutin related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"17997","ensembl":"ENSG00000181027","omim":"606596","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"19767415[PMID]_20961759[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.85,"area":"Norway","status":"Validated","source":"20961759[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-04","source":"11592034[PMID]_12666124[PMID]_14523375[PMID]_15505776[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030099","label":"Reduced muscle fiber alpha dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030092","label":"Reduced muscle fiber merosin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}