What is the role of imaging studies in the workup of congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Persons with congenital muscular dystrophies due to mutations in genes for selenoprotein N and in genes for the extracellular matrix proteins integrin-α7 and collagen type VI have normal brain MRI findings.

Patients CMD with familial junctional epidermolysis bullosa often have brain atrophy and enlarged ventricles on MRI.

In those with congenital muscular dystrophies due to mutations in laminin-α2 or with any other congenital muscular dystrophy due to abnormal O-glycosylation, brain MRI findings are abnormal.

  • The mildest changes are seen in deficiency of laminin-α2, with periventricular white matter changes being the most common abnormality (increased T2 signal).

  • In the congenital muscular dystrophies due to abnormalities in O-glycosylation, the abnormalities vary, even in patients with mutations in the same gene. Brain MRIs can be normal, or they can show severe changes, such as agyria and severe pontocerebellar hypoplasia.

  • All patients with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy have abnormal MRIs, which show a range from mild changes of only cerebellar hypoplasia or cysts to severe disease, as described above.

  • The most severe changes are seen in Walker-Warburg syndrome, with most patients having severe agyria, pontocerebellar hypoplasia, and, in many patients, encephalocele or myelomeningocele.

Muscle MRI can help differentiate muscular dystrophies with rigidity of the spine [56]

  • SEPN1 – Selective involvement of the sartorius, gastrocnemius spared

  • COL6A – Bethlem myopathy (BM) patients had concentric atrophy and peripheral involvement, most obvious in vasti and gastrocnemius

  • COL6A - Ullrich CMD patients had diffuse involvement of thigh muscles with selective sparing of anteromedial thigh muscles; more diffuse than BM, but similar peripheral involvement of gastrocnemius

  • LMNA – Involvement of vasti at thigh level, medial > lateral gastrocnemius, soleus involved

  • LGMD2A (CAPN3) – Selective involvement of adductor magnus and posterior thigh muscles, medial > lateral gastrocnemius, soleus involved

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