Balance and falls in people with Charcot-Marie-Tooth disease: A cohort survey

Aim: To explore the relationship between balance deficit, falls, and activities of daily living in a cohort with Charcot-Marie-Tooth disease. Method: A cohort survey of individuals with Charcot-Marie-Tooth disease attending a neurogenetic clinic was carried out. Surveys were sent to individuals on a database of a state-wide neurogenetic service located in Perth, Australia. Results: Out of 71 surveys, 40 were returned (56%). The cohort were predominantly male (68%), the average age was 55.5 years (range 18-84) and average age at symptom onset was 23 years (range 5-65). Excluding skeletal foot changes, balance deficits (87.5%) and loss of balance confidence (90%) were the most frequently rated symptoms and those most severely affecting physical functioning (71% and 64% respectively). Ankle splinting was frequently reported in this population (65%). The majority of participants (69%) had fallen at least once in the past year and 40% of fallers reported having never seen a physiotherapist. Conclusions: Despite balance deficits and loss of balance confidence being frequently reported to impact daily activities, and falls and near-falls being common in this cohort with Charcot-MarieTooth disease, more than a third had not seen a physiotherapist. Future management to reduce the disease burden should investigate the effects of a timely multidisciplinary approach to manage balance dysfunction, and strategies to reduce falls in this population.