Hyperekplexia in a neonate: A novel finding in fukuyama type congenital muscular dystrophy

Turan Tunc, I. A. Mungan, E. Okulu, S. T. Tiras, M. Tekin, B. Atasay, S. Arsan, T. Turmen

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia 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.

Original languageEnglish (US)
Pages (from-to)275-279
Number of pages5
JournalGenetic Counseling
Volume20
Issue number3
StatePublished - Oct 26 2009
Externally publishedYes

Keywords

  • Dystrophy
  • Fukuyama
  • Hyperekplexia

ASJC Scopus subject areas

  • Genetics(clinical)

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