Development of an Instrumented Movement Analysis protocol for the multitasking analysis of locomotor functions in adult and young patients with Charcot-Marie-Tooth disease: multicenter study to characterise reliability and responsiveness

The present study is aimed to develop and validate a procedure for the objective and quantitative evaluation of locomotor disabilities in patients with Hereditary Motor and Sensory Neuropathy, called Charcot-Marie-Tooth (CMT) disease. Patients with CMT present walking and locomotor difficulties due to motor and sensory deficit caused by the disease. Onset of symptoms often occurs in childhood and the disease then follows a progressive disabling course. To date no pharmacological treatment is available and clinical approaches are limited to physiotherapy, orthotics and surgical treatment of skeletal deformities. Recently, treatment with ascorbic acid has been shown effective in an animal model and multicenter clinical trials are currently being performed in humans. However, there is still a lack of standard objective and quantitative evaluation procedures to show the efficacy of a therapy on patient's motor disorders. The use of instruments to analyse quantitatively human movement would provide a solution to this problem. At early stage CMT may not drastically affect the basic gait ability, though accessory more demanding locomotor functions (toe- and heel-walking, stair negotiation) may be clearly compromised. Therefore, in addition to basic straight gait, also those more demanding locomotor functions will be analysed. In the present project, a dedicated protocol for data acquisition will be applied on 100 patients with CMT and 50 control subjects, in order to have reference data. The test-retest reliability of the procedure and the sensitivity to changes induced by diseases progression will be evaluated too. A network of 4 clinical and research centers has been established to allow the enrolment of 100 CMT subjects in three geographical area of Italy: Milan, Rome and Genoa. The ACMT-Rete patient's association will be involved in patient's recruitment and dissemination of project goals and obtained results among CMT patients community.