What is the role of imaging studies in the workup of Charcot-Marie-Tooth (CMT) disease?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, PhD, MSc, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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MRI can demonstrate enlarged nerves, not only at the level of the spinal roots but also in the limbs. More recent studies have documented involvement of the foot muscles early in the disease course, with subsequent variable involvement of the proximal leg musculature. Subclinical central nervous system disease has been described in several subtypes of CMT. These forms are associated with abnormalities on brain MRI, somatosensory evoked potentials and transcranial magnetic stimulation. MRI of the muscles may also help in the differentiation between CMT1A and CMT2A. CMT1A patients have more significant involvement of peroneal nerve innervated muscles while fatty infiltration involving superficial posterior compartment muscles is more common in CMT2A. [25]

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