FRIEDREICH’S ATAXIA: CLINICAL AND THERAPEUTIC PERSPECTIVES

• DOI: https://doi.org/10.22533/at.ed.1595132525029

• Palavras-chave: Friedreich's Ataxia, Neurodegenerative Diseases, Hereditary Disorders, , Therapeutic Approach.Frataxin

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

• Abstract:

  Objective: The study aims to consolidate current knowledge on the etiological, clinical and therapeutic aspects of 's Ataxia Friedreichand present future perspectives for its diagnosis and treatment. Methodology: A narrative bibliographic review based on the PVO (Population, Variables and Outcome) strategy analyzed 21 articles selected from the databasePubMed , considering publications in English or Spanish from 5 to 10 years ago. Results:Non-drug treatment of 's Ataxia Friedreichincludes physiotherapy and occupational therapy, while antioxidants such as coenzyme Q10, Idebenone and EPI-743 aim to improve mitochondrial function. Omaveloxolone has shown benefits in neurological tests and quality of life. Genetic therapies are showing promise, with a focus on removing the GAA repeat or replacing frataxin. Deferiprone is used to reduce iron accumulation and slow neurodegeneration.  New approaches include the drug Nomlabofusp, which seeks to correct mitochondrial deficiency, and studies investigating the use of viral vectors for gene therapy. Calcitriol increases levelsfrataxin , but does not show significant improvements in neurological symptoms, highlighting the need for further research.  Conclusion: Despite the challenges in diagnosing and managing 's AtaxiaFriedreich, progress has been made with multidisciplinary support treatments and effective drug therapies. Genetic and epigenetic therapies are emerging as promising alternatives, with the tract corticospinal standing out as a therapeutic target in advanced stages of the disease.