FUNCTIONAL EVALUATION OF PATIENTS AFFECTED WITH CHARCOT-MARIE-TOOTH DISEASE

Charcot-Marie-Tooth disease is a genetic neuropathy causing progressive muscle weakness and wasting and sensory reduction, starting from the distal regions of the limbs. Typical is the variability in clinical severity, which depends on the distoproximal extension of muscle weakening and its biomechanical consequences. Since the rehabilitative intervention varies according to the disease severity, we have previously suggested to grade patients in seven levels (or stages) as to the lower limbs and four levels as to the upper limbs (1). Patients are fitted in the classification on the basis of the results of a functional evaluation, which includes: The muscle testing is to be repeated after orthotic and physiotherapeutic treatment (2), since muscle strength can improve as the result of an increased mobility and a better muscle action line. The range-of-motion testing is also to be repeated to monitor the efficacy of the stretching program and, in children, to discover new joint alterations as soon as they appear. This methodology is recommended not only for rehabilitative purposes but also to monitor the natural evolution of the disease in an easy and objective way.