QUALITY OF LIFE AND DISABILITY IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE. A MULTICENTRE AND MULTIPERSPECTIVE FOLLOW-UP

Traditional assessment of neuromuscular disease has been based on physician derived and instrumental findings. Furthermore, when physicians do look at the patient’s point of view, they usually don’t do it in a standardized way and they don’t “measure” the patient’s perceptions rigorously. If our goal is to help our patients, we must know what they want and how they value what they want. Furthermore, we must also be sure that we can measure those things in a valid way. Health Related Quality of Life (HRQoL) measures, obtained through patient-oriented tool (self-administered questionnaire), are now considered essential in the evaluation of neuromuscular diseases. Charcot-Marie-Tooth disease (CMT) is an inherited neuropathy; patients develop progressive weakness and sensory disturbances. These disorders can dramatically interfere with the quality of life of the patients. Patients sometimes become severely disabled even at very young age. The clinical, genetic and neurophysiological findings in CMT have been evaluated as diagnostic parameter and outcome measure in many studies. However, in CMT patients, these measurements were not related with validated measurement of the outcomes that are more relevant to patients such as functional status, symptoms and disability. The aims of the study are: 1) to assess HRQoL and disability of CMT patients, in a wide and well-represented sample, and to evaluate how conventional parameters are related with the patient’s perception of his own quality of life and the disability; 2) to evaluate the evolution of quality of life and disability in CMT patients, and to look for the variables that can predictive the evolution of the disease; 3) to develop a national network and a database on CMT disease to facilitate the research on CMT.