Perturbations of gait and balance: A new experimental set-up applied to patients with CMT type 1a

Purpose: To determine the level of ambulatory disability and the use of walking aids in well-ambulant HMSN I patients, and to identify the related demographic, physical and psychological variables. Methods: Seventy-five well-ambulant HMSN I patients, aged 20 to 58 years, were measured in a cross-sectional assessment, addressing disability of ambulation and mobility (Sickness Impact Profile), demographics, muscle strength (Medical Research Council), use of walking aids, physical activity (actometer), fatigue (Checklist Individual Strength) and quality of life (EuroQoL). Results: Seventy-two percent of the patients experienced significant ambulatory disabilities. These patients were less active and more fatigued compared to patients without ambulatory disability and healthy reference groups. The total patient sample showed marked distal paresis (mean MRC = 3.3), a high level of paindiscomfort (76%), but normal levels of employment (62.7%) and anxietydepression (20%). Walking aids were used by 49% of the patients. These patients were older, less active, had less muscle strength, and experienced more problems with ambulation, mobility and fatigue than non-users, but they did not necessarily perceive walking disabilities. Conclusion: Ambulatory disability frequently occurred in wellambulant HMSN I patients. The use of walking aids was not completely in accordance with perceived ambulatory disability. Therefore prescription requires specific attention as well as complaints about pain and fatigue.