An unusual case of Duchenne muscular dystrophy.


Topaloğlu H., Dinçer P. R. , Göğüş S., Ayter S., Topçu M.

Brain & development, vol.15, pp.313-5, 1993 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15
  • Publication Date: 1993
  • Doi Number: 10.1016/0387-7604(93)90032-4
  • Journal Name: Brain & development
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.313-5
  • Hacettepe University Affiliated: Yes

Abstract

A 10-year-old boy with Duchenne muscular dystrophy (DMD), with quite unusual clinical data, is presented. He was unable to walk until age 6, walked only for 9 months and then became wheel-chair bound. No dystrophin was present on muscle biopsy sections and a large deletion was found in the dystrophin gene. The deletion encompassed the central high frequency deletion region of the gene. Early developmental milestones may be delayed in DMD, but patients usually start to walk around 2-3 years of age. A delay of the extent in this case is very unusual.