Congenital muscular dystrophy: correlation of muscle biopsy and clinical features

Pediatr Neurol. 1994 May;10(3):233-6. doi: 10.1016/0887-8994(94)90029-9.

Abstract

Six patients with congenital muscular dystrophy examined from January, 1990 to January, 1993 are presented. Vastus lateralis muscle biopsies were performed on all patients. Five of 6 patients had "pure" congenital muscular dystrophy without evidence of central nervous system disease. Of these 5 patients, 2 had mild courses, 2 moderate, and 1 severe. Possible correlation between severity of muscle pathology and severity of clinical course in "pure" congenital muscular dystrophy patients is discussed.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • Connective Tissue / pathology
  • Consanguinity
  • Electromyography
  • Female
  • Humans
  • Infant
  • Male
  • Muscles / pathology*
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Necrosis
  • Neurologic Examination