FRIEDREICH’S ATAXIA: CLINICAL AND THERAPEUTIC PERSPECTIVES

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 Ata-xiaFriedreich, 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.

Authors

Publication Details

Journal
International Journal of Health Science
Published
2025-02-26
DOI
https://doi.org/10.22533/at.ed.1595132525029
Primary Topic
Ethics in medical practice
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

FRIEDREICH’S ATAXIA: CLINICAL AND THERAPEUTIC PERSPECTIVES

Rui Medeiros, Grazielle Lavor da Silva, Stephanie Vieira de Sousa, Enrique Rodrígues-Moura et al.
International Journal of Health Science
Ethics in medical practice
article

FRIEDREICH’S ATAXIA: CLINICAL AND THERAPEUTIC PERSPECTIVES

Rui Medeiros, Grazielle Lavor da Silva, Stephanie Vieira de Sousa, Enrique Rodrígues-Moura, Matheus Barros Mazare, P. Ramos, Norma Rafaella Uchôa Espíndola, Geovana Rodrigues Madureira Miranda, Luis Felipe Segalla, Heloísa Zagabria Ferrari
article en

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 Ata-xiaFriedreich, 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.

International Journal of Health ScienceVol. 5(13)
Openalex Percentile: Top 92%
Ethics in medical practice
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

FRIEDREICH’S ATAXIA: CLINICAL AND THERAPEUTIC PERSPECTIVES — Rui Medeiros, Grazielle Lavor da Silva, et al. · International Journal of Health Science (2025) | TGRS Research Map | TGRS