Scoliosis in Patients with Charcot-Marie-Tooth Disease

A retrospective review of medical records and radiographs of patients with Charcot Marie Tooth (CMT) from a major neuromuscular clinic was performed to calculate the prevalence of scoliosis and to characterize the scoliotic deformity in affected patients. Forty-one patients with scoliosis were identified from a population of 272 patients with CMT disease (15.1%). There were seventeen affected females and 24 males. The average age at diagnosis of scoliosis was 12.7 years (range 6.5-17.8 years) and the initial curve magnitude measured 28.3 degrees (10 - 65 degrees). Thirteen of 41 curves were left thoracic. When the subtype of CMT was known, the predominance of patients were affected by types 1 and 1A CMT. 85.4% of the patients with scoliosis were ambulatory.Bracing was prescribed in seventeen children (41.5%) for curves measuring 23-47 degrees (ave. 35.2 degrees). Two patients were lost to follow-up during brace wear. Eleven of the seventeen (64.7%) progressed and were scheduled for spinal fusion. Only two of fifteen children with known outcomes did not progress ten degrees (13.3%).Fourteen patients (34.1%) were scheduled for spinal fusion surgery. One patient died preoperatively. The average age at surgery was 13.6 years (11.5-15.8 years), and curves measured between 50 and 80 degrees (ave 63.1 degrees). Unlike idiopathic scoliosis, 71.4% of surgical curves had a minimum of 50 degrees of kyphosis (ave. 56.1 degrees, range 16-90 degrees). Posterior spinal fusion was performed in twelve and anterior/posterior fusion in one. An average of 13.2 levels were fused, and all fusions except two extended below L2. Somatosensory evoked potential and, in more recent cases, motor evoked monitoring were successful in only three cases (all of which showed consistently low amplitude potentials), and failed in eight patients. Wake up tests were performed in four children. Surgery resulted in no neurologic complications. No patient required revision surgery to date at 2.7 year average follow-up.In conclusion, scoliosis is rare in patients with CMT, occurring in only 15.1% of our population. Scoliosis in these patients is usually associated with thoracic kyphosis, and there is an increased incidence of left thoracic curves. Contrary to earlier reports, orthotic management of these curves is rarely successful. 34.1% of patients required spinal fusion surgery, and surgical instrumentation and fusion was safe and effective in these adolescents. Intraoperative neurologic monitoring may be impossible in most cases, so a wakeup test should be anticipated.