Duchenne and Becker muscular dystrophies: an Estonian experience

Brain Dev. 1999 Jun;21(4):244-7. doi: 10.1016/s0387-7604(99)00016-9.

Abstract

The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Creatine Kinase / blood
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Estonia
  • Gene Deletion
  • Humans
  • Intellectual Disability / diagnosis
  • Male
  • Movement Disorders / diagnosis
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism
  • Prospective Studies
  • Retrospective Studies
  • Speech Disorders / diagnosis

Substances

  • Dystrophin
  • Creatine Kinase