In this video from Randall Juip, Claire, a patient who was recently diagnosed with the genetic disorder Friedreich’s ataxia (FA), discusses the cause of the disease, its symptoms, and its history.
Claire, along with her brother Jack who also has the condition, explains how someone inherits Friedreich’s ataxia and some of the ways the condition affects them. FA is a mitochondrial disease which affects balance, coordination, strength and endurance, although everyone who lives with the condition is affected differently.
Enlisting the help of her sisters, Claire explains the science behind the gene mutations which lead to the development of the disease. She also talks about the prevalence of silent carriers of the mutated gene and how they can all trace their ancestry back to one person who lived in Europe 10,000 years ago.
Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.