Outcomes of Charcot-Marie-Tooth Disease Cavovarus Surgical Reconstruction

Background: Charcot-Marie-Tooth (CMT) disease is a progressive inherited neurologic disorder causing muscle weakness and lower extremity deformity. The goal of foot and ankle surgical treatment is to create a stable, plantigrade foot, with the potential elimination of brace-wear for ambulation. The aim of this study was to report baseline CMT patient function and subsequent outcome improvement from surgical treatment, as determined by PROMIS physical function (PF), pain interference (PI), and mental health/depression (D) scores. Methods: Retrospective data were collected on consecutive CMT patients older than 18 years receiving surgical treatment by a single surgeon from 2018 to 2022 with minimum 1-year follow-up. Each patient prospectively completed PROMIS preoperatively and postoperatively after all planned surgical treatment was completed. Prospective clinical and radiographic data were collected to describe complications and correlation to outcome. Results: Ninety-five feet in 64 patients older than 18 years were included for analysis. Mean follow-up was 21 months (range, 12-31) with 100% minimum 1-year follow-up. CMT patients had worse preoperative and baseline scores in all domains except PROMIS-D compared with population normal PROMIS scores. Significant improvements were identified in all PROMIS domains following surgical treatment. The mean PROMIS-PF score increased (40 to 45, delta = 4.9, P < .001), the mean PROMIS-PI score decreased (59 to 52, delta = 7.1, P < .001), and the mean PROMIS-D score decreased (50 to 47, delta = 3.0, P = .004). Subgroup analysis was performed for patients with severe radiographic deformity and those treated with arthrodesis in an attempt to demonstrate the impact of disease severity on outcome. Subgroup analysis demonstrated that arthrodesis led to worse overall PROMIS-PF outcome with the same change score. Conclusion: Surgical treatment for CMT patients provides significant clinical improvement in all measured outcome domains. CMT patients can be restored to normal population physical function and pain interference outcome scores. Patients with more severe deformity have similar improvement from surgical treatment, although their ultimate functional improvement is blunted due to a lower baseline.