{"orpha":466921,"name":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466921/","orphanet_url":"https://www.orpha.net/en/disease/detail/466921","names":{"fr":{"name":"Syndrome de contracture progressive de l'enfance-faiblesse musculaire des ceintures-dystrophie musculaire","definition":"Dystrophie musculaire progressive caractérisée par l'association d'une faiblesse des ceintures et de contractures articulaires diffuses sans cardiomyopathie. Les patients manifestent une faiblesse des membres inférieurs qui progresse vers les membres supérieurs et des muscles axiaux et, à terme, vers une perte définitive de la mobilité, des contractures articulaires étendues des membres et parfois de la colonne vertébrale, et une atteinte respiratoire de degré variable. Des vacuoles cerclées, une augmentation du nombre de noyaux internes, des corps cytoplasmiques et une dystrophie font partie des changements morphologiques visibles sur les biopsies musculaires."},"de":{"name":"Im Kindesalter beginnende progressive Kontrakturen mit Gliedergürtelmuskelschwäche und Muskeldystrophie","definition":"Eine fortschreitende Muskeldystrophie, die durch die Koexistenz von Gliedergürtelschwäche und diffusen Gelenkkontrakturen ohne Kardiomyopathie gekennzeichnet ist. Die Patienten weisen eine Schwäche der unteren Gliedmaßen auf, die im weiteren Verlauf auch die oberen Gliedmaßen und die Achsenmuskulatur betrifft und schließlich zu einem dauerhaften Verlust des Gehvermögens, weit verbreiteten Gelenkkontrakturen in den Gliedmaßen und manchmal der Wirbelsäule sowie einer variablen Beteiligung der Atemwege führt. Zu den morphologischen Veränderungen in Muskelbiopsien gehören umrandete Vakuolen, vergrößerte innere Zellkerne, Zytoplasmakörper und ein dystrophisches Muster."},"es":{"name":"Síndrome de contracturas progresivas-debilidad de cinturas-distrofia muscular de inicio en la infancia","definition":"Es una distrofia muscular progresiva caracterizada por la coexistencia de debilidad de cinturas y de contracturas articulares difusas sin miocardiopatía. Los pacientes se presentan con debilidad de las extremidades inferiores que progresa hasta afectar también a las extremidades superiores y a los músculos axiales, que provoca, finalmente, la pérdida permanente de la deambulación, contracturas articulares generalizadas en las extremidades y, en ocasiones, en la columna, y una afectación respiratoria variable. Los cambios morfológicos en la biopsia muscular incluyen vacuolas ribeteadas, un aumento de los núcleos internos, cuerpos citoplasmáticos y un patrón distrófico."},"it":{"name":"Sindrome contratture progressive ad esordio infantile-debolezza dei cingoli-distrofia muscolare","definition":"Si tratta di una distrofia muscolare progressiva, caratterizzata da debolezza dei cingoli e contratture articolari diffuse, in assenza di cardiomiopatia. I pazienti presentano debolezza degli arti inferiori che progredisce verso gli arti superiori e i muscoli assiali, causando la perdita permanente della deambulazione, contratture articolari diffuse degli arti e talvolta della colonna vertebrale, con un interessamento respiratorio di gravità variabile. Le alterazioni morfologiche osservate sulle biopsie dei muscoli comprendono i vacuoli cerchiati, l'aumento dei nuclei interni, i corpi citoplasmatici e la distrofia."},"nl":{"name":"Progressieve contracturen met aanvang in de kindertijd - limb-girdle-zwakte - spierdystrofie-syndroom","definition":"Een progressieve spierdystrofie, gekarakteriseerd door samen voorkomen van limb-girdle-zwakte en diffuse gewrichtscontracturen zonder cardiomyopathie. Patiënten presenteren zwakte in onderste ledematen die mettertijd ook bovenste ledematen en axiale spieren treft, en die uiteindelijk leidt tot permanent verlies van loopvermogen, wijdverspreide gewrichtscontracturen in ledematen en soms ruggengraat, en variabele respiratoire betrokkenheid. Morfologische veranderingen in spierbiopten zijn onder meer omrande vacuolen, toename van interne nuclei, cytoplasmatische lichaampjes, en een dystrofisch patroon."},"pt":{"name":"Síndrome de contraturas progressivas com início na infância-fraqueza das cinturas dos membros-distrofia muscular"},"pl":{"name":"Zespół postępujących przykurczów, słabości obręczowo-kończynowej i dystrofii mieśniowej"},"cs":{"name":"Syndrom progresivních kontraktur s nástupem v dětském věku, slabosti pletencových svalů a svalové dystrofie"},"uk":{"name":"Синдром прогресуючих контрактур-слабкості мязового поясу-мязової дистрофії, що починається у дитинстві","definition":"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern."},"zh":{"name":"儿童期起病的进行性挛缩-四肢束带无力-肌肉营养不良综合征","definition":"一种进行性肌肉萎缩症，其特点是同时存在肢带肌无力和弥漫性关节挛缩，但无心肌病。患者表现为下肢无力，逐渐进展为同时累及上肢和中轴肌的症状，最终导致永久丧失行走能力，四肢广泛的关节挛缩，有时累及脊柱，多呼吸系统。肌肉活检中的形态学变化包括边缘空泡、内核增加、胞浆体和营养不良特征。"},"tr":{"name":"Çocukluk çağında başlayan ilerleyici kontraktürler-ekstremite kavşak tip kas distrofisi sendromu"}},"xrefs":[{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568863","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26581302[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26581302[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26581302[PMID]"}],"phenotypes":null}