{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-90EIIZKE/40d8687d-555f-480b-83bd-db69bfc94f1c/HTML","dcterms:extent":"25 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-90EIIZKE/c7d26a46-4f8e-4b55-a33f-322629ff6769/PDF","dcterms:extent":"61 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-90EIIZKE/3cccb336-4726-47ae-9d08-20b3a5887fa9/TEXT","dcterms:extent":"24 KB"}],"edm:TimeSpan":{"@rdf:about":"1929-2026","edm:begin":{"@xml:lang":"en","#text":"1929"},"edm:end":{"@xml:lang":"en","#text":"2026"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-90EIIZKE","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/urn:nbn:si:spr-a30mfzkp"},{"@xml:lang":"sl","#text":"Zdravniški vestnik"}],"dcterms:issued":"2001","dc:creator":["Neubauer, David","Paro Panjan, Darja","Peterlin, Borut","Šušteršič, Breda","Zidar, Janez"],"dc:format":[{"@xml:lang":"sl","#text":"številka:7/8"},{"@xml:lang":"sl","#text":"letnik:70"},{"@xml:lang":"sl","#text":"str. 387-390"}],"dc:identifier":["ISSN:1318-0347","COBISSID:13643481","URN:URN:NBN:SI:doc-90EIIZKE"],"dc:language":"sl","dc:publisher":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"dc:subject":[{"@xml:lang":"en","#text":"Diagnosis"},{"@xml:lang":"en","#text":"diagnostika"},{"@xml:lang":"en","#text":"Genetic counseling"},{"@xml:lang":"en","#text":"Infant, newborn"},{"@xml:lang":"sl","#text":"mišična distrofija"},{"@xml:lang":"en","#text":"Myotonia atrophica"},{"@xml:lang":"en","#text":"Pedigree"},{"@xml:lang":"en","#text":"Prenatal diagnosis"},{"@xml:lang":"sl","#text":"prenatalna diagnostika"}],"dcterms:temporal":{"@rdf:resource":"1929-2026"},"dc:title":{"@xml:lang":"sl","#text":"Kongenitalna miotonična distrofija - prikaz primera| Congenital myotonic dystrophy - case report|"},"dc:description":[{"@xml:lang":"sl","#text":"Background. Myotonic dystrophy is inherited as an autosomal dominant trait. itis characterized by myotonia, myopathy of voluntary and involuntary muscles,frontal baldness in men, cardiac conduction abnormalities, catharacts,intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy. Conclusions.The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care"},{"@xml:lang":"sl","#text":"Izhodišča. Miotonična distrofija je avtosomno dominantna bolezen, za katero soznačilni miotonija, miopatija prečno progastih in gladkih mišic, čelna plešavost pri moških, katarakta, prevodne srčne motnje, intelektualne motnje in endokrinopatija. Moški imajo pogosto gonadno atrofijo in so neplodni, prizadete ženske pa morejo zanositi. V teh primerih se njihova miotonija lahkozelo poslabša, pogosti so resni zapleti med porodom. Njihovi otroci imajopo navadi najhujšo vrsto te bolezni-kongenitalno miotonično distrofijo-znaki te oblike se lahko pokažejo že pri plodu, takoj po rojstvu pase po navadi pri novorojenčkih pokažejo znaki hude dihalne stiske. Poleg tega so za to obliko značilni še drugi klinični znaki: šibkost obraznih mišic,huda ohlapnost, težave pri hranjenju, ekvinovarus okvara stopal in umskamanjrazvitost. V članku je opisan primer novorojenčice s tako obliko miotonične distrofije. Zaključki. Avtorji razpravljajo o diagnostičnih možnostih in o zgodnji obravnavi v obdobju novorojenčka. Poudarjajo zlasti pomen anamnestičnih podatkov in iskanja možnih družinskih članov s pomočjo republiškega registra za živčnomišične bolnike. Pri sumu na miotonično distrofijo (ali celo potrjenih drugih družinskih članih s to boleznijo) sta zaprepoznavo kongenitalne oblike pomembna tako klinična slika pri novorojenčkukot usmerjeni pregled matere. Zgodnjo diagnozo lahko potrdimo z genetsko preiskavo in staršem ponudimo možnost ustreznega genetskega svetovanja in prenatalne diagnostike pri načrtovanju prihodnjih nosečnosti"}],"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:doc-90EIIZKE","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-90EIIZKE"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-90EIIZKE/c7d26a46-4f8e-4b55-a33f-322629ff6769/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-90EIIZKE/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-90EIIZKE"}}}}