9. Friedreich’s Ataxia: When Genetics Load the Dice
Ninth on our list is a cause that brings us back to the genetic roots of ataxia—Friedreich’s Ataxia (FRDA). This rare genetic disorder is the most common cause of inherited ataxia, affecting both the peripheral and central nervous systems.
FRDA is caused by a defect in the FXN gene, which provides instructions for making a protein called frataxin. Frataxin is crucial for the proper function of mitochondria, the energy-producing centers of cells.
When the FXN gene is faulty, it leads to frataxin deficiency, disrupting energy production, increasing oxidative stress, and causing the death of nerve cells, particularly in the cerebellum and spinal cord.
The symptoms of FRDA often begin in childhood and include not only ataxia but also fatigue, difficulty with speech, and heart problems. Despite the challenges FRDA presents, people with the condition can lead fulfilling lives, particularly with the help of supportive therapies.
Physical therapy can help manage ataxia and maintain mobility, while speech therapy can aid in managing dysarthria. Various devices and adaptive aids can support daily living activities. Moreover, psychological support for the individual and their family is essential due to the progressive nature of the disease.(9)
