A case with congenital myotonic dystrophy Konjenital miyotonik distrofi olgusu
Turkiye Klinikleri Pediatri, cilt.21, sa.3, ss.175-178, 2012 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 21 Sayı: 3
- Basım Tarihi: 2012
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.175-178
- Anahtar Kelimeler: Muscle hypotonia, Myotonic dystrophy
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Congenital myotonic dystrophy is one of the hereditary muscle diseases which present symptoms in neonatal period. The main symptoms of disease are hypotonia, facial diplegia, respiratory distress, feeding difficulties and arthrogryrposis. Serum creatinin kinase level is in normal range and muscle biopsy seldom shows dystrophy findings. Electromyography of the newborn patient is helpful detecting the discharge for just some cases. As having maternal inheritance, the disease has specific clinical and laboratory findings relating to mother. The infant who had symptoms of severe hypotonia and diagnosed by evaluation of her mother is presented in this report. Maternal and siblings evaluation is important in the differential diagnosis of the hypotonic infant. Copyright © 2012 by Türkiye Klinikleri.