Friedreich Ataxia (FA) is a rare genetic disorder that affects the nervous system, specifically causing progressive damage to the spinal cord and peripheral nerves. It is characterized by symptoms such as muscle weakness, difficulty walking, impaired coordination, and speech problems.
The prevalence of Friedreich Ataxia varies among different populations. In the United States and Europe, it is estimated to affect approximately 1 in every 50,000 individuals. However, the prevalence may be higher in certain regions or communities with a higher carrier rate of the responsible gene mutation.
FA is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The responsible gene, called FXN, produces a protein called frataxin, which is essential for normal functioning of mitochondria, the energy-producing structures within cells.
While Friedreich Ataxia is considered a rare condition, its impact on individuals and families can be significant. The progressive nature of the disease often leads to increasing disability and reduced life expectancy. Ongoing research and advancements in treatment options offer hope for improved management and potential future therapies.