Bryam Esteban Coello Garcia, Karina Noemi Contreras Garcia, Priscila Jazmin Sarango Lapo, Tatiana Carolina Espinoza Coyago, Johanna Belen Illescas Aguilera, Bonny Maria Montalvan Nivicela, Karen Sofia Suscal Pelaez
General Practitioner , Ecuador
Friedreic’s Ataxia is a disease characterized by modification of the FRDA gene on chromosome 9q13. Affection of this protein induces altered expression of frataxin. When this is altered, molecular changes and cell death arise due to iron accumulation in the mitochondria and elevation of reactive oxygen species. The damage occurs mostly in neurons, causing neuronal impairment; however, alterations also occur in the heart, causing cardiac fibrosis. Symptomatology presents in adolescence, with peripheral sensory neuropathies, vestibular changes, hyporeflexia, myoclonias and dysarthria. Systemic manifestations include cardiomyopathies, diabetes mellitus and foot deformity. Specifically in the heart, the myocardium becomes hypertrophic with thickening of the ventricular walls, which subsequently progresses to heart failure and death. The aim of this bibliographic review is to inform the scientific community of the presence of systemic manifestations, especially cardiovascular, in Friedreich’s Ataxia; since this disease is not only characterized by the presence of neurological alterations, but also of affections to different apparatuses and systems of the human body, such as the heart, due to the cellular alteration that Friedreichs Ataxia causes.
Keywords: Cardiomyopathy, Friedreichs ataxia, heart failure, frataxin, mitochondria, mitochondria
Journal Name :
EPRA International Journal of Multidisciplinary Research (IJMR)

Published on : 2022-09-21

Vol : 8
Issue : 9
Month : September
Year : 2022
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