Charcot-Marie-Tooth Disease of the Foot and Ankle: Imaging Features and Pathophysiology

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy, resulting in length-dependent motor and sensory deficiencies. Asymmetric nerve involvement in the lower extremities creates a muscle imbalance, which manifests as a characteristic cavovarus deformity of the foot and ankle. This deformity is widely considered to be the most debilitating symptom of the disease, causing the patient to feel unstable and limiting mobility. Foot and ankle imaging in patients with CMT is critical for evaluation and treatment, as there is a wide range of phenotypic variation. Both radiography and weight-bearing CT should be used for assessment of this complex rotational deformity. Multimodality imaging including MRI and US is also important to help identify changes in the peripheral nerves, diagnose complications of abnormal alignment, and evaluate patients in the perioperative setting. The cavovarus foot is susceptible to distinctive pathologic conditions including soft-tissue calluses and ulceration, fractures of the fifth metatarsal, peroneal tendinopathy, and accelerated arthrosis of the tibiotalar joint. An externally applied brace can assist with balance and distribution of weight but may be appropriate for only a subset of patients. Many patients will require surgical correction, which may include soft-tissue releases, tendon transfers, osteotomies, and arthrodesis when necessary, with the goal of creating a more stable plantigrade foot. The authors focus on the cavovarus deformity of CMT. However, much of the information discussed may also be applied to a similar deformity that may result from idiopathic causes or other neuromuscular conditions. ^©RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.