CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

  • David Neubauer Pediatrična klinika, Klinični center, Vrazov trg 1, 1525 Ljubljana
  • Breda Šušteršič Zdravstveni dom Domžale, Mestni trg 2, 1230 Domžale
  • Darja Paro Panjan Ginekološka klinika, Klinični center, Šlajmerjeva 3, 1525 Ljubljana
  • Borut Peterlin Ginekološka klinika, Klinični center, Šlajmerjeva 3, 1525 Ljubljana
  • Janez Zidar Klinični oddelek, Inštitut za klinično nevrofiziologijo, Klinični center, Zaloška 7, 1525 Ljubljana
Keywords: myotonic dystrophy, Steinert’s syndrome, congenital form, prenatal diagnostics

Abstract

Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is 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.

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Published
2017-04-16
How to Cite
1.
Neubauer D, Šušteršič B, Panjan D, Peterlin B, Zidar J. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT. ZdravVestn [Internet]. 16Apr.2017 [cited 15Dec.2019];70(7-8). Available from: https://vestnik.szd.si/index.php/ZdravVest/article/view/2572
Section
Case report, short scientific article