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  • Kongenitalna miotonična distrofija - prikaz primera = Congenital myotonic dystrophy - case report
    Neubauer, David ...
    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.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 70, št. 7/8, jul.-avg. 2001, str. 387-390)
    Vrsta gradiva - članek, sestavni del
    Leto - 2001
    Jezik - slovenski
    COBISS.SI-ID - 13643481

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    Digitalna knjižnica Slovenije - dLib.si

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