HYPEREKPLEXIA IN A NEONATE: A NOVEL FINDING IN FUKUYAMA TYPE CONGENITAL MUSCULAR DYSTROPHY

Tunc T., Mungan I. A., Okulu E., Tiras S. T., Tekin M., Atasay B., ...Daha Fazla

GENETIC COUNSELING, cilt.20, sa.3, ss.275-279, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 3
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.275-279
  • Anahtar Kelimeler: Fukuyama, Dystrophy, Hyperekplexia, DISEASE, GENE, POMGNT1
  • Ankara Üniversitesi Adresli: Evet

Özet

Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy: The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperckplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.