Respiratory Function in Friedreich's Ataxia

Friedreich's ataxia (FA) is a neurodegenerative disorder often accompanied by respiratory dysfunction, but detailed respiratory profiles remain understudied.

To evaluate pulmonary parameters and respiratory muscle strength in individuals with FA compared with healthy controls.

Sixteen FA patients and 20 age-matched healthy controls underwent spirometry, maximal inspiratory and expiratory pressure measurements, sniff nasal inspiratory pressure (SNIP), phrenic nerve conduction study, peripheral oxygen saturation (SpO₂), and end-tidal CO2 (ETCO2). Respiratory parameters were analyzed using Student's t-test or Mann-Whitney test, and linear or quantile regression adjusted for body mass index and smoking status. Ataxia severity was assessed using the Scale for the Assessment and Rating of Ataxia (SARA).

FA patients exhibited significantly reduced forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV₁), alongside decreased maximal respiratory pressures (P < 0.01). A restrictive ventilatory pattern predominated. Peripheral oxygen saturation was lower in the FA group (P < 0.01).

Respiratory impairment appears mostly subclinical, suggesting that FA patients may be vulnerable to pulmonary infections and ventilatory failure. This dysfunction may reflect both neuromuscular weakness and impaired respiratory coordination. Early and regular respiratory assessment, together with preventive and rehabilitative strategies integrated into multidisciplinary care, may improve quality of life and potentially prolong survival in individuals with FA. © 2025 International Parkinson and Movement Disorder Society.