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HighlightsThe 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.

Nusinersen is the first approved drug to treat spinal muscular atrophy (SMA). Its periodic intrathecal delivery may cause psychological burden in infants and in their parents. We report our experience during expanded access program (EAP) for type 1 SMA in a single Italian center. Because of the occurrence of stress emotional states, anxious reactions and fear before, during, and after lumbar puncture (LP), a specific psychological intervention was implemented based on regulation of emotions, anticipatory expectations, and post-event attributions. Activities included the use of fairy tales, distraction, music play through listening preferred cartoon themes in the youngest children, and contextual games and solution of fun riddle quizzes in the oldest ones. State anxiety greatly reduced in children and their parents. Treatment of psychological aspects should therefore become an integral part of health care in SMA infants and children during Nusinersen treatment.

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