Congenital muscular dystrophy: a review of the literature

Clin Neurol Neurosurg. 1996 Nov;98(4):267-80. doi: 10.1016/0303-8467(96)00043-1.

Abstract

Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV). Data of the literature concerning those different CMD types have been reviewed and are presented with emphasis on signs and symptoms, clinical course, laboratory, neurophysiological, radiological, morphological and genetic characteristics.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Biopsy
  • Brain / pathology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Neurologic Examination
  • Syndrome