Case reportSport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer

•The paper reports a wheelchair-bound CMT 4A patient who became a Paralympic swimmer.•She regularly performed intensive aerobic workout and competed in sprint distance events.•She became a backstroke and freestyle gold medalist in the Italian Championships.•Sport activity increased proximal muscle strength of upper limbs and improved QoL.•Sport activity reduced anxiety, annulled depression and increased self-esteem and self-efficacy.

This study reports the positive physical, emotional and psychosocial changes induced by sport activity in a Paralympic swimmer with Charcot-Marie-Tooth (CMT) type 4A. When we compared evaluations before initiating sport activity with those after five years of competitive activity, we found: i) increased proximal muscles strength of upper limbs; ii) augmented ability to propel wheelchair independently; iii) improved quality of life; iv) reduced trait anxiety and striking improvement of depression; v) enhanced self-esteem. Longitudinal studies in large cohorts to evaluate the positive effects of sport activity are needed to support provision of evidence-based advice to patients and families.