Updated: Jan 8
Friedreich’s Ataxia (FA) is an inherited disease leading to progressive nervous and muscular system damage. It is an inherited disease, and symptoms begin during childhood. FA is fatal due to the damage it causes to the heart and the complications that arise from it.
This article provides insight into the etiology, epidemiology, and management options for Friedreich's Ataxia.
What is Friedreich’s Ataxia?
FA, also known as spinocerebellar degeneration, falls under the category of ataxia disorders. Specifically, FA causes damage to the brain, spinal cord, and heart of an affected individual. Nerve fibers degenerate and become thinner, weaker, and less effective. The cerebellum also begins to degenerate. Because the cerebellum coordinates balance and movement, damage to it results in unsteady movement and impaired sensory functions. Many with the disorder may eventually develop diabetes. However, Friedreich’s Ataxia does not affect cognitive abilities, such as reasoning and thinking.
What are the Affected Populations?
1 in every 40,000 people is affected by FA, and there is currently no cure. Friedreich’s Ataxia is the most commonly inherited ataxia in the Middle East, the Indian subcontinent, North Africa, and Europe. Furthermore, about 1 in 50,000 Americans of European ancestry are affected by it. Identification in other populations is uncommon.
What Causes Friedreich’s Ataxia?
FA is caused by a mutation in a gene labeled FXN. This gene encodes for a protein called frataxin, which helps with the proper function of the mitochondria. Because people with Friedreich’s Ataxia do not produce adequate amounts of frataxin, nerve and heart cells start to degenerate. This is due to the fact that they are dependent on cellular energy production.
What are the Signs and Symptoms of Friedreich’s Ataxia?
Symptoms typically begin within the ages of 5-15 years, although at times they can appear in adulthood. Early neurological symptoms include poor balance and difficulty walking. Furthermore, there can be dysarthria, which is slowed or slurred speech. This can progress and become hesitant and jerky.
Ataxia (or difficulty coordinating movement) can occur in all of the muscles and worsens as it slowly moves up from the extremities to the torso.
About ⅔ of people with FA will develop scoliosis, a sideways curvature of the spine, and will require surgical intervention for treatment. Problems with coordinating the muscles of the tongue and throat will result in difficulty swallowing.
Other symptoms include vision changes, loss of hearing, weak muscles, and involuntary eye movements. The various forms of heart disease that can accompany FA, such as cardiomegaly, myocardial fibrosis, tachycardia, and heart block each have different manifestations and are generally the cause of death.
About 50% of people with Friedreich’s Ataxia develop carbohydrate intolerance, and roughly 30% develop diabetes. Furthermore, individuals with the disease tire easily and take longer times to recover from illnesses such as the cold and flu.
How is Friedreich’s Ataxia Treated?
FA is incurable. However, the underlying conditions and symptoms can be managed. Among these include physical and speech therapy to improve function. Walking aids, braces, surgery, and other devices are also common to help with spinal or foot problems. Lastly, medications can be used to combat heart disease and help manage diabetes.
How Can Technology Affect Friedreich’s Ataxia Patients?
Genetic biology is being applied to study the progression of FA. TALEN and CRISPR are gene modifying techniques that can add or remove genetic sequences to mimic the mutations in Friedreich’s Ataxia. With the help of these technologies, scientists in MRC National Institute for Medical Research and King's College London have created a cellular model allowing them to study FA disease progression. They hope that this will allow them to understand Friedreich’s Ataxia on a molecular level and provide a platform to study and diagnose the disease.
How Can Nootropics Affect People With Friedreich’s Ataxia?
Idebenone is a specific nootropic with positive results among FA patients. It helps prevent brain cells from oxidative damage, and it protects neurons in the hippocampus from toxicity. Most importantly, it protects mitochondrial function which leads to increased energy utilization in the brain, and combats the effects of Friedreich’s Ataxia directly.
Friedreich’s Ataxia is a rare, progressive neuromuscular disease. Caused by a genetic mutation, it decreases the energy production in cells and leads to the degeneration of nerve and muscle tissue. Symptoms generally occur during childhood and can include trouble with speech and movement, as well as progressive heart disease. Although incurable, there is technology in development to help further research the progression of the disease and aid in diagnosis. Nootropics, such as idebenone, directly combat its effects by increasing mitochondrial energy production.
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A friendly reminder: We've done our research, but you should too! Check our sources against your own and always exercise sound judgment.
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet https://rarediseases.org/rare-diseases/friedreichs-ataxia/ https://www.healthline.com/health/friedreichs-ataxia#diagnosis https://friedreichsataxianews.com/news-posts/2015/06/04/popular-genetic-technology-applied-study-friedreichs-ataxia/ https://www.causenta.com/this-is-your-brain-on-smart-drugs/ Image credits: https://unsplash.com/ by Karen Lau and Jon Flobrant
About the Author
Project Intern for The Hope Project (Texas, USA)
Davinia Ibizugbe is a Nigerian writer. She has planned her education around the hopes of becoming a future Neurosurgeon. Her interest in neurology developed early in her life. Davina has a passion for learning about neurological diseases and methods to combat them.