Treatment of FRDA in

Friedreich's ataxia (FRDA) is the most common hereditary ataxia, while still a rare disease (1 in 50000). ICD-10 code G11.1. The underlying cause is an autosomal recessive mutation in the FXN gene on chromosome 9q21.11, encoding the mitochondrial protein frataxin. Frataxin deficiency disrupts iron-sulfur metabolism in mitochondria and produces progressive degeneration of the posterior spinal columns, dentate nuclei of the cerebellum, peripheral nerves, and cardiac muscle. Clinically onset is typically at ages 5–15 (though late-onset forms exist) with progressive ataxia — impaired coordination, staggering gait, dysarthria, loss of deep sensation. In parallel — scoliosis (in 80%+ of cases), foot deformities (pes cavus in 50–80%), cardiomyopathy (40%), and diabetes (10%) develop. Progression is slow but inexorable — the mean age of losing independent ambulation is about 25 years from onset. There is no disease-stopping therapy yet, although in 2023 the FDA approved the first drug (omaveloxolone / Skyclarys) for FRDA — it slows progression. On the horizon are gene and cell therapies. However rehabilitation already today significantly affects quality of life, extends functional capabilities, and preserves independence. Our Huizhou program: coordination training (exercises for movement accuracy, smoothness, and timing — critically important in ataxia), balance therapy (stabilometric platforms, exercises on unstable surfaces, proprioceptive stimulation), occupational therapy with adaptive device selection (special walkers, stabilizers, weighted utensils), specialized therapeutic exercise to preserve muscle mass and joint mobility, physiotherapy, massage. For scoliosis — a custom orthosis + posture work; for pes cavus — biomechanical insoles. A special section is gentle TCM approaches to support the heart. Hypertrophic cardiomyopathy develops in 40% of patients, and any myocardial support is valuable. Acupuncture at specific cardiac points (with mandatory cardiologist coordination), gentle lymphatic drainage massage, individual herbal blends for general state. In parallel — coordination with the pediatric cardiologist (annual echocardiography, ECG monitoring) and endocrinologist (diabetes risk).