Multidimensional evaluation of clinical and functional impairment in a large population of patients with Charcot-Marie-Tooth

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies, leading progressive muscular weakness, pes cavus, loss of deep tendon reflexes, distal sensory loss, and gait impairment. Charcot Marie Tooth Neuropathy Scale (CMTNS) represents the gold standard to assess and grade the impairment in CMT patients. The aim of this retrospective study was to assess the correlation between CMTNS and functional status in CMT patients. We analyzed data of patients with diagnosis of CMT, collecting the following data: age; gender; BMI; CMT type (Demyelinating- Axonal- Other or mixed forms); Time from diagnosis; Charcot-Marie-Tooth Disease Neuropathy Score (CMTNS); MEDICAL RESEARCH COUNCIL lower limb sum-score (MRCLL-SS); MEDICAL RESEARCH COUNCIL Upper Limb Sum Core (MRCUL-SS); Manual Ability Measure-16 (MAM-16); Berg Balance Scale (BBS); Walking Handicap Scale (WHS); Walk-12; Rankin Scale; Modified Fatigue Impact Scale (MFIS); Visual Analogic Scale (VAS); 10 m Walking test. We included 235 patients with a mean age of 45.77 ± 15 years. All variables, excluded VAS and MFIS, showed a statistically significant correlation with CMTNS. In particular, a moderate negative correlation was found between CMTNS and MRCLL-SS (r = -0.47), and Berg Balance scale (r = - 0.61); A moderate positive correlation was found between CMTNS and Rankin scale (r = 0.53), and walk 12 (r = 0.41). Taken together, these findings suggest that CMTNS is a valuable tool to detect the severity of disability and limbs function in CMT patients.