Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score

Background: Gait analysis is a reliable tool to characterise ambulation in Charcot-Marie-Tooth, the obtained are complex data makes its use scarce in clinical practice. The use of synthetic measures may enable the clinician to easily interpret gait kinematics in Charcot-Marie-Tooth. Aims: To test the usefulness of Gait Profile Score as a method to quantify and monitor kinematic gait alterations in Charcot-Marie-Tooth. Methods: A group of patients with Charcot-Marie-Tooth and a control group underwent Gait Analysis. Neurological impairment was evaluated by means of the Charcot Marie Tooth neuropathy score in his original form and in the Rasch Analysis revised form. Differences in Kinematics scores induced by the pathology were assessed using the Mann-Whitney U test. The relationship between gait parameters and Charcot Marie Tooth neuropathy score was assessed by means of the Spearman correlation. Results: Twenty patients were enrolled. Mann-Whitney U test revealed a significant effect of the pathology on Gait Profile Score (p < 0.001). Charcot Marie Tooth neuropathy score was positively correlated with Gait Profile Score (Rho = 0.708, p = 0.001). Conclusion: Gait profile score can differentiate Charcot Marie Tooth from unaffected people and to quantify ambulation impairment, also identifying the joints more affected by the disease. • Implications for rehabilitation • Physiotherapy and orthotics constitute the sole possible clinical approach for Charcot Marie Tooth, but the clinical scales are scarcely effective for assessing the rehabilitative outcome. • Synthetic measures are able to summarize Charcot Marie tooth kinematics in a single score, and Gait Profile Score is able to differentiate patients with Charcot Marie tooth from healthy controls. • Gait Profile Score is related to clinical disability as measured by the Charcot Marie tooth neuropathy score.