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., ...More

GENETIC COUNSELING, vol.20, no.3, pp.275-279, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.275-279
  • Keywords: Fukuyama, Dystrophy, Hyperekplexia, DISEASE, GENE, POMGNT1
  • Ankara University Affiliated: Yes

Abstract

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.