Friedreich Ataxia and Emerging Treatment Approaches to Improve Patient Quality of Life
David Lynch, MD, PhD, discusses how Friedreich ataxia is a progressive neurodegenerative disorder caused by frataxin deficiency, leading to ataxia, cardiac issues, and multisystem complications. Its management requires multidisciplinary care, with recent advances including FDA-approved omaveloxolone and emerging treatments such as vatiquinone and gene therapy offering new hope.
EP. 1: Friedreich Ataxia: Pathophysiology, Prevalence, and Prognosis
March 17th 2025An expert discusses how Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in the FXN gene, reducing frataxin protein production. This leads to mitochondrial dysfunction and progressive damage to the spinal cord, peripheral nerves, and heart. Patients present with progressive ataxia, dysarthria, sensory loss, and areflexia, typically manifesting between ages 5 and 15. Diagnosis relies on clinical assessment, genetic testing for GAA expansions, and supportive findings, including cardiomyopathy, scoliosis, and diabetes.
EP. 2: Importance of Multidisciplinary Teams for Friedreich Ataxia Treatment and Quality of Life
March 17th 2025An expert discusses how Friedreich ataxia significantly impacts quality of life through progressive neurological deterioration affecting mobility, coordination, and cardiovascular health. Standard care includes symptom management with physical/occupational therapy and cardiac monitoring for both pediatric and adult patients. Multidisciplinary teams (neurologists, cardiologists, therapists, and genetic counselors) coordinate comprehensive care addressing the disease's multisystem effects.
