About Friedreich ataxia (FA):
- It is a rare, inherited disorder that causes progressive damage to the nervous system.
- The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs.
- Cause:
- It is caused when a gene called FXN becomes mutated.
- The FXN gene codes for a protein called frataxin. Frataxin is essential for mitochondria, which are our cells’ powerhouses.
- The chemical ATP, which is the cell’s energy currency, is made mostly in the mitochondria.
- Nerve, spinal cord, brain, and heart muscle cells use a lot of energy.
- When their frataxin levels become abnormally low, the mitochondria produce ATP less effectively and also accumulate toxic by-products.
- This renders the cell dysfunctional, leading to the symptoms of FA.
- Individuals who inherit two defective copies of the FXN gene, one from each parent, will develop the disease.
- A person who inherits only one abnormal copy of the gene is called a carrier.
- Most of the affected individuals come from consanguineous marriages. That is, marriages between relatives, such as uncles and nieces, or between cousins.
- Treatment:
- There is currently no cure for FA.
- Treatment focuses on easing symptoms and maintaining comfort and function for as long as possible.
