Friedreich’s Ataxia (FA) is a rare and progressive genetic disorder that primarily affects the nervous system, causing a range of physical and neurological challenges.
Here are key insights into this condition:
Friedreich’s Ataxia is caused by mutations in the FXN gene. This gene is responsible for producing a protein called frataxin, essential for the proper functioning of the mitochondria. The mutated gene leads to insufficient production of frataxin, resulting in impaired mitochondrial function.
FA primarily affects the nervous system, causing a decline in coordination and balance. Individuals with FA often experience difficulties with muscle control and coordination, leading to unsteady movements, tremors, and challenges in performing fine motor skills.
Beyond neurological symptoms, FA frequently involves the heart. Cardiac complications, such as hypertrophic cardiomyopathy, are common. These issues can lead to an increased risk of heart failure, making regular cardiac monitoring crucial for individuals with FA.
Friedreich’s Ataxia is a progressive condition, meaning symptoms worsen over time. While the age of onset can vary, symptoms often become apparent during adolescence. As the disorder advances, individuals may experience increased difficulty with mobility and may eventually require mobility aids.
Understanding Friedreich’s Ataxia involves recognizing its genetic basis, neurological impact, cardiac complications, and progressive nature. So we think that this article might have helped you with all your queries regarding Friedreich’s ataxia.
Dr. Navin Tiwari