Muscle MRI in female carriers of dystrophinopathy

Eur J Neurol. 2012 Sep;19(9):1256-60. doi: 10.1111/j.1468-1331.2012.03753.x. Epub 2012 May 15.


Background and purpose: Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for prenatal diagnosis. Muscle biopsy is currently the diagnostic instrument of choice in sporadic patients. We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy.

Methods: Evaluation of pelvic and lower limb MRI scans of 12 dystrophinopathy carriers was performed.

Results: We found a frequent involvement of the quadratus femoris, gluteus maximus and medius, biceps femoris long head, adductor magnus, vasti and paraspinal muscles, whilst the popliteus, iliopsoas, recti abdominis, sartorius, and gracilis were relatively spared. Asymmetry was a major feature on MRI; it could be detected significantly more often than with sole clinical examination and even in patients without weakness.

Conclusions: The pattern we describe here is similar to that reported in Duchenne and Becker muscular dystrophy, although asymmetry represents a major distinctive feature. Muscle MRI was more sensitive than clinical examination for detecting single muscle involvement and asymmetry. Further studies are needed to verify the consistency of this pattern in larger cohorts and to assess whether muscle MRI can improve diagnostic accuracy in carriers with normal dystrophin staining on muscle biopsy.

MeSH terms

  • Adult
  • Asymptomatic Diseases
  • Cohort Studies
  • Female
  • Heterozygote*
  • Humans
  • Lower Extremity / pathology
  • Magnetic Resonance Imaging / methods*
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology*
  • Pelvis / pathology
  • Retrospective Studies