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.