{"orpha":565909,"name":"Calpain-3-related limb-girdle muscular dystrophy D4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LGMD type D4","LGMD1I","Limb-girdle muscular dystrophy type D4"],"definition":"A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565909/","orphanet_url":"https://www.orpha.net/en/disease/detail/565909","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la calpaïne-3 D4","synonyms":["Dystrophie musculaire des ceintures type D4","LGMD liée à la calpaïne-3 D4","LGMD type D4","LGMD1I"],"definition":"Dystrophie musculaire des ceintures autosomique dominante rare, caractérisée par l'apparition à l'âge adulte d'une faiblesse des muscles proximaux, de douleurs et d'une cachexie affectant principalement les muscles proximaux des jambes, les muscles paraspinaux lombaires et le muscle gastrocnémien médial. Dans certains cas, une atteinte des membres supérieurs peut également s'observer. Le taux sérique de créatine kinase est généralement élevé (mais pas systématiquement), et la biopsie musculaire fait apparaître des changements myopathiques non spécifiques. La gravité de la maladie est variable, bien que la plupart des patients parviennent à se déplacer de manière autonome."},"de":{"name":"Calpain 3-assoziierte Gliedergürtelmuskeldystrophie D4","synonyms":["LGMD Typ D4","LGMD1I"],"definition":"Eine autosomal-dominante Gliedergürtel-Muskeldystrophie, die sich im Erwachsenenalter durch proximal gelegene Muskelschwäche, Schmerzen und Muskelschwund auszeichnet und vorwiegend die proximalen Bein-, Lendenwirbel- und medialen Gastrocnemius-Muskeln betrifft. In einigen Fällen können auch die oberen Gliedmaßen betroffen sein. Die Kreatinkinase im Serum ist häufig, aber nicht immer, erhöht, und die Muskelbiopsie zeigt unspezifische myopathische Veränderungen. Der Schweregrad der Erkrankung ist unterschiedlich, obwohl die meisten Patienten gehfähig bleiben."},"es":{"name":"Distrofia muscular de cinturas D4 asociada a la calpaína-3","synonyms":["LGMD1I"],"definition":"Es una distrofia muscular de cinturas autosómica dominante poco frecuente caracterizada por el inicio en la edad adulta de debilidad muscular proximal, dolor y atrofia que afecta predominantemente a la parte proximal de la pierna, a la musculatura paravertebral lumbar y al gastrocnemio medial. En algunos casos también se puede observar afectación de miembros superiores. La creatina cinasa sérica suele estar elevada y la biopsia muscular muestra cambios miopáticos inespecíficos. La gravedad de la enfermedad es variable, aunque la mayoría de los pacientes permanecen ambulatorios."},"it":{"name":"Distrofia muscolare dei cingoli tipo D4 correlata alla calpaina-3","synonyms":["Distrofia muscolare dei cingoli tipo D4","LGMD D4 correlata alla calpaina-3","LGMD tipo D4","LGMD1I"]},"nl":{"name":"Calpaïne-3-gerelateerde limb-girdle-spierdystrofie D4","synonyms":["LGMD1I"],"definition":"Een zeldzame autosomaal dominante limb-girdle-spierdystrofie, gekenmerkt door in de volwassenheid optredende zwakte, pijn en atrofie van proximale spieren, vooral van proximale beenspieren, lumbale paraspinale spieren, en mediale musculus gastrocnemius (oppervlakkige kuitspier). Betrokkenheid van bovenste ledematen kan in sommige gevallen ook waargenomen worden. Het gehalte van creatinekinase in serum is vaak maar niet altijd verhoogd, en spierbiopsie toont aspecifieke myopathische veranderingen. De ernst van de ziekte is variabel, maar de meeste patiënten blijven mobiel."},"pt":{"name":"Distrofia das cinturas musculares dos membros D4 calpaína-relacionada","definition":"Distrofia muscular das cinturas autossómica dominante rara, caracterizada por início na idade adulta de fraqueza, dor e atrofia musculares proximais, afetando predominantemente os músculos proximais da perna, paraespinhais lombares e gastrocnémio medial. O envolvimento dos membros superiores também pode ser observado em alguns casos. A creatina quinase sérica está frequentemente, mas nem sempre, elevada e a biópsia muscular demonstra alterações miopáticas inespecíficas. A gravidade da doença é variável, embora a maioria dos doentes permaneça ambulatória."},"pl":{"name":"Dystrofia mięśniowa kończynowo-obręczowa związana z kalpainą - 3, D4","synonyms":["Dystrofia mięśniowa kończynowo-obręczowa typ D4"]},"cs":{"name":"Svalová dystrofie končetin D4 související s kalpainem-3","synonyms":["LGMD type D4","LGMD1I","Limb-girdle muscular dystrophy type D4"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія D4, повязана з кальпаїн-3","synonyms":["LGMD тип D4","LGMD1I","Мязова дистрофія мязів поясу кінцівок, тип D4"],"definition":"A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory."},"zh":{"name":"Calpain-3相关的肢肌营养不良 D4型","synonyms":["肢肌营养不良 D4型"]},"tr":{"name":"Kalpain-3-ilişkili ekstremite kavşak tip kas distrofisi D4","synonyms":["LGMD1I","LGMD tip D4","Calpain-3-ilişkili LGMD D4","Ekstremite-kavşak tipi kas distrofisi tip D4"]}},"xrefs":[{"source":"OMIM","code":"618129","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035433","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"29133","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"35433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102014,"name":"Autosomal dominant 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":"28881388[PMID]","hgnc":"1480","ensembl":"ENSG00000092529","omim":"114240","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27259757[PMID]_28881388[PMID]_30055862[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"27259757[PMID]_28881388[PMID]"}],"phenotypes":null}