Scoliosis in patients with Charcot-Marie-tooth disease

Background: Scoliosis appears to occur in approximately one-third of patients with Charcot-Marie-Tooth disease. Little is known about the response of these curves to treatment. The purpose of this study was to establish the prevalence of scoliosis in a large population of children and adolescents with Charcot-Marie-Tooth disease, to evaluate factors linked with curve progression, and to assess the response to orthotic and surgical treatment. Methods: The medical records of 298 patients were retrospectively reviewed. Radiographs were reviewed for patients identified as having spinal deformity. The type, size, and progression of the scoliotic curve were measured, and the effectiveness of bracing and surgical treatment was assessed. Results: Forty-five patients with scoliosis associated with Charcot-Marie-Tooth disease were identified. The average age at the diagnosis of the spinal deformity was 12.9 years, and the average curve magnitude at the time of diagnosis was 27.6°. One-third of the curves were left thoracic, and 49% were associated with increased thoracic kyphosis. Twenty-four of the thirty-four curves that were followed for more than one year progressed. Brace treatment was successful in only three of sixteen patients. Surgery was performed in fourteen of the forty-five patients. Long posterior spinal fusions were performed most often, with an average of 13.1 spinal segments fused. Instrumentation was used in all posterior fusions. Intraoperative neurologic monitoring was possible for only three of the twelve patients for whom it was attempted during surgery, but there were no intraoperative neurologic complications. Conclusions: Scoliosis in patients with Charcot-Marie-Tooth disease differs from that in patients with idiopathic scoliosis. Thoracic hyperkyphosis is common, and bracing is usually unsuccessful. Surgical fusion does not appear to be associated with a high rate of complications, although it is often impossible to perform intraoperative neurologic monitoring. Level of Evidence: Therapeutic Level IV. See Instructions to Authors for a complete description of levels of evidence.