FRIEDREICH’S ATAXIA: A RARE NEURODEGENERATIVE CONDITION

Abstract

Friedreich’s ataxia is a rare neuromuscular condition that affects 1 in 50,000 individuals in the United States (“Friedreich’s Ataxia Guide,” 2020). Friedreich’s ataxia, otherwise known as FA, is an autosomal recessive disorder that targets progressive degeneration of nerve cells and cardiac cells through a GAA trinucleotide expansion on the ninth chromosome (“Friedreich’s Ataxia Guide,” 2020). While unaffected individuals tend to have this repeat less than 30 times, FA patients will show the GAA sequence anywhere from 100 to 1,000 times (Power & Bidichandani, 2018). While most patients typically start showing symptoms between 5 and 15 years old, the onset of the condition and the severity of symptoms are linked to the length of the GAA expansion (“Friedreich’s Ataxia Guide,” 2020). This expansion triggers the onset by impairing frataxin production in the cells. Frataxin is a mitochondrial protein that is essential for regular energy production and iron regulation throughout one’s body (González-Cabo & Palau, 2013). FA patients tend to have high levels of excess iron, which can lead to oxidative stress and nerve cell damage (González-Cabo & Palau, 2013), Since Friedreich’s ataxia is so rare, diagnosing the condition can be a long and difficult process. Typically, medical professionals will look for symptoms that come with Friedreich’s ataxia such as loss of coordination, fatigue, scoliosis, diabetes mellitus, or an abnormal heart condition (“Friedreich’s Ataxia Fact Sheet,” 2018). While there is currently no cure, treatments for FA include physical therapy/exercise, occupational therapy, and pharmaceutical drug trials with antioxidants and non-antioxidants, as well as gene therapy research are ongoing (Flavell, 2017). This paper identifies and discusses current known causes, symptoms, treatments, and research of Friedreich’s ataxia in greater depth.