Friedreich Ataxia: Understanding the Symptoms, Causes, and Treatment Options
Friedreich ataxia is a rare, progressive genetic disorder that affects the nervous system and causes progressive damage to the spinal cord and peripheral nerves. In this article, we will explore what Friedreich ataxia is, its symptoms, causes, and available treatment options.
Symptoms of Friedreich Ataxia
The symptoms of Friedreich ataxia can vary from person to person, but they typically include:
- Ataxia: a lack of coordination and difficulty with balance and fine motor skills
- Loss of sensation in the extremities
- Muscle weakness and atrophy
- Speech difficulties
- Hearing and vision problems
- Cardiomyopathy: a weakening of the heart muscle
Causes of Friedreich Ataxia
Friedreich ataxia is caused by a genetic mutation that affects the production of frataxin, a protein that helps cells produce energy. The genetic mutation is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The genetic mutation is most common in individuals of European descent.
Treatment of Friedreich ataxia:
Currently, there is no cure for Friedreich ataxia, and treatment is focused on managing symptoms and improving quality of life. Some of the most common treatment options for Friedreich ataxia include: