Ataxia de Friedreich: Perspectivas Clínicas e Terapêuticas

• DOI: https://doi.org/10.22533/at.ed.8651325150214

• Palavras-chave: Ataxia de Friedreich, Doenças Neurodegenerativas, Transtornos Hereditários, Frataxina, Abordagem Terapêutica.

• Keywords: Friedreich's Ataxia, Neurodegenerative Diseases, Hereditary Disorders, Frataxin, Therapeutic Approach.

• Abstract: SUMMARY: Objective: The study consolidates current knowledge on the etiological, clinical, and therapeutic aspects of Friedreich's Ataxia and presents future perspectives for its diagnosis and treatment. Methodology: A narrative literature review based on the PVO strategy (Population, Variables, and Outcome) was conducted, analyzing 21 articles selected from the PubMed database, considering publications in English or Spanish from the last 5 to 10 years. Results: Non-pharmacological treatment of Friedreich's Ataxia includes physiotherapy and occupational therapy, while antioxidants such as coenzyme Q10, Idebenone, and EPI-743 aim to improve mitochondrial function. Omaveloxolone showed benefits in neurological tests and quality of life. Genetic therapies appear promising, focusing on the removal of the GAA repeat or the replacement of frataxin. Deferiprone is used to reduce iron accumulation and slow neurodegeneration. New approaches include the drug Nomlabofusp, which aims to correct mitochondrial deficiency, and studies investigating the use of viral vectors for gene therapy. Calcitriol increases frataxin levels but does not show significant improvements in neurological symptoms, highlighting the need for further research. Conclusion: Despite challenges in the diagnosis and management of Friedreich's Ataxia, there have been advances with multidisciplinary supportive treatments and effective pharmacological therapies. Genetic and epigenetic therapies emerge as promising alternatives, with the corticospinal tract standing out as a therapeutic target in advanced stages of the disease.