Orthopaedic complications in Charcot-Marie-Tooth disease: results of a prospective study

Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications and orthopaedic surgery is often required. However, there are no evidence-based guidelines on the type or timing of the surgery. Only few studies have described the long-term results of surgical procedures and evidence regarding optimal surgical management of these patients is lacking. We prospectively studied surgical management of CMT patients attending our centre.We collected data and assessed CMT patients before and after surgery. Data included: history of ankle instability, pain, skin condition, details of physiotherapy and orthotic management, assessment of lower limb strength, Charcot-Marie-Tooth Examination Score (CMTES), Foot Posture Index, ankle dorsiflexion range of movement, quality of life questionnaire (SF-36) and specific questionnaires (foot index and Manchester-Oxford foot questionnaire, modified fatigue severity scale and modified falls efficacy scale), details of surgical procedures. Patients were assessed yearly after surgery. So far 19 patients (14 males and 5 females, age range 20 - 58) have been evaluated prior to surgery. 17/19 had genetically confirmed CMT (13 CMT1A, 2 CMTX, 1 CMT4A, 1 CMT2B). 10 patients have been assessed after 1 year, 6 patients after 2 years and 5 patients after 3 years from surgery. A wide range of surgical procedures were performed by one dedicated orthopaedic surgeon. Preliminary results showed improvement of foot alignment as measured by the foot posture index and pain as measured by the foot function index after surgery. Prospective assessments are still ongoing. Further analysis and a larger number of patients‘ assessment will help develop orthopaedic intervention guidelines and inform questions for further research.