Friedreich ataxias, also known as Friedreich's ataxia (FA), is a progressive genetic disorder that primarily affects the nervous system. It is named after the German physician Nikolaus Friedreich, who first discovered it in the 19th century.
Fa is typically characterized by the degeneration of nerve tissue in the spinal cord and specific areas of the brain, leading to various neurological symptoms. The primary symptom of Friedreich ataxias is ataxia, which refers to a lack of coordination and unsteadiness in movements. This can manifest as difficulty with balance, coordination, and fine motor skills. Other common symptoms include muscle weakness, tremors, speech problems, and impaired vision and hearing.
Friedreich ataxias is caused by a mutation in the FXN gene, which is responsible for producing frataxin, a protein involved in cellular energy production. This mutation leads to a deficiency of frataxin, resulting in the degeneration of nerve cells. The disorder is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
There is currently no cure for Friedreich ataxias, and treatment primarily focuses on managing symptoms and improving overall quality of life. This may involve physical therapy to maintain mobility and reduce muscle stiffness, medications to control symptoms such as muscle spasms or heart complications, and assistive devices to aid with mobility and communication.
Friedreich ataxias is a progressive disorder, and the severity and progression of symptoms can vary among individuals. In most cases, the disease onset occurs during childhood or adolescence, and individuals typically require mobility aids, such as wheelchairs, at later stages.
