The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up

Objectives. This case report explores the feasibility and effects of long-term physical exercise (PE) in a patient with TRPV4-related scapuloperoneal spinal muscular atrophy (SPSMA).

Methods. We describe a 26-year-old male who regularly engaged in supervised PE since age 21. He underwent annual clinical evaluations and laboratory assessments every 25 months to monitor maximal oxygen consumption (V̇O₂max), muscle strength, body composition, and emotional well-being.

Results. Over five years, the clinical condition remained stable. The patient showed V̇O₂max and handgrip strength values comparable to athletic cohorts; body composition aligned with reference values for age- and sex-matched healthy individuals; and limb muscle strength was preserved over time. Additionally, he maintained an active working life and consistently reported positive emotional well-being throughout the follow-up period.

Conclusions. This report provides preliminary data supporting the feasibility and potential benefits of long-term PE in the management of TRPV4-related SPSMA.