{"orpha":199329,"name":"Congenital myopathy, Paradas type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199329/","orphanet_url":"https://www.orpha.net/en/disease/detail/199329","names":{"fr":{"name":"Myopathie congénitale type Paradas","definition":"Dystrophie musculaire congénitale rare caractérisée par une apparition précoce de l'hypotonie, un retard du développement moteur et une faiblesse musculaire généralisée à progression variable. Une atteinte importante des muscles fléchisseurs du bassin et du cou a été rapportée, ainsi qu'une atteinte précoce des ischio-jambiers et des gastrocnémiens médians, identifiée à l'exploration par IRM des muscles. Les taux sériques de créatine kinase sont considérablement élevés (dans certains cas dès la petite enfance). La biopsie musculaire révèle l'absence de dysferline."},"de":{"name":"Myopathie, kongenitale, Typ Paradas","definition":"Eine seltene kongenitale Muskeldystrophie, die durch eine früh einsetzende Hypotonie, eine verzögerte motorische Entwicklung und eine unterschiedlich fortschreitende generalisierte Muskelschwäche gekennzeichnet ist. Es wurde über eine überwiegende Beteiligung der Becken- und Nackenbeugemuskeln berichtet sowie über eine frühe Beteiligung der Oberschenkelmuskeln und des medialen Musculus gastrocnemius (sichtbar im Muskel-MRT). Die Kreatinkinasewerte im Serum sind deutlich erhöht (in einigen Fällen bereits in der frühen Kindheit). Eine Muskelbiopsie zeigt das Fehlen von Dysferlin."},"es":{"name":"Miopatía congénita tipo Paradas","definition":"Es una distrofia muscular congénita poco frecuente caracterizada por la aparición temprana de hipotonía, retraso del desarrollo motor y debilidad muscular generalizada de progresión variable. Se ha descrito la afectación predominante de los músculos flexores del cuello y de la pelvis, así como la afectación temprana de los isquiotibiales y el gastrocnemio medial visible en la RM muscular. Los niveles séricos de creatinquinasa están marcadamente elevados (en algunos casos ya desde la primera infancia). La biopsia muscular muestra ausencia de disferlina."},"it":{"name":"Miopatia congenita tipo Paradas","definition":"Si tratta di una distrofia muscolare congenita rara, caratterizzata da ipotonia ad esordio precoce, ritardo dello sviluppo motorio e debolezza muscolare generalizzata a progressione variabile. La RMN può evidenziare un interessamento prevalente dei muscoli pelvici e dei muscoli flessori del collo, e un interessamento precoce dei muscoli ischiocrurali e del gastrocnemio mediale. I livelli di creatin-chinasi nel siero sono molto elevati (in alcuni pazienti fin dall'infanzia). La biopsia muscolare rivela l'assenza della disferlina."},"nl":{"name":"Congenitale myopathie, Paradas-type","definition":"Een zeldzame congenitale spierdystrofie, gekarakteriseerd door vroege aanvang van hypotonie, motorische ontwikkelingsachterstand, en variabel progressieve gegeneraliseerde spierzwakte. Er werd hoofdzakelijk betrokkenheid van buigspieren van bekken en nek gerapporteerd, alsook vroege betrokkenheid van hamstrings en mediale musculus gastrocnemius zichtbaar op MRI van spier. Creatinekinasegehaltes in serum zijn aanzienlijk verhoogd (in sommige gevallen al vanaf de vroege kindertijd). Spierbiopsie toont afwezigheid van dysferline."},"pt":{"name":"Miopatia congénita, tipo Paradas","definition":"A miopatia congénita tipo Paradas é uma forma de disferlinopatia de início precoce que se apresenta com hipotonia pós-natal, fraqueza proximal dos membros inferiores e músculos flexores do pescoço à nascença e atraso do desenvolvimento motor."},"pl":{"name":"Miopatia wrodzona, typ Paradasa"},"cs":{"name":"Vrozená myopatie, Paradasův typ"},"uk":{"name":"Вроджена міопатія, тип Парадаса","definition":"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin."},"zh":{"name":"先天性肌病Paradas型","definition":"Paradas型先天性肌病是一种罕见的先天性肌营养不良症，其主要临床表现为早发性肌张力低下、运动发育迟缓和进行性全身肌无力，主要累及骨盆和颈部的屈肌，肌肉MRI上可见早期累及腘绳肌和内侧腓肠肌。血清肌酸激酶水平明显升高（部分患者从儿童早期开始）。肌肉活检显示缺乏Dysferlin蛋白。"},"tr":{"name":"Doğumsal miyopati, Paradas tipi"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"560364846"},{"source":"MONDO","code":"0016049","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":207073,"name":"Qualitative or quantitative defects of dysferlin","classifications":[156]}],"children":[],"genes":[{"symbol":"DYSF","name":"dysferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19084402[PMID]","hgnc":"3097","ensembl":"ENSG00000135636","omim":"603009","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19084402[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19084402[PMID]"}],"phenotypes":null}