The clinical and genetic correlates of MRI findings in myotonic dystrophy

Neuroradiology. 1996 Oct;38(7):629-35. doi: 10.1007/s002340050322.


Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multi-system disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68%), subcortical white matter lesions (65%), wide Virchow-Robin spaces (38%) and thickening of the skull (35%). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38% and the calf in 44%. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits.

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 19
  • Female
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics
  • Pedigree
  • Prospective Studies
  • Protein Kinases / genetics
  • Trinucleotide Repeats / genetics


  • Protein Kinases