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Friedreich Ataxia: Pathophysiology, Prevalence, and Prognosis
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An 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.
Video content above is prompted by the following:
- Briefly describe the pathophysiology of Friedreich ataxia and its associated symptoms.
- How is Friedreich ataxia clinically diagnosed, and when do patients present to clinic?
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