Young Friedreich’s Ataxia Patient Talks About How the Condition Is Inherited
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.
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