What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a genetic disease that causes the nervous system to slowly weaken. Friedreich’s ataxia happens in about 1 in 30,000 people.
What are the Signs & Symptoms of Friedreich’s ataxia?
Patients lose coordination in the arms and legs because of damage to the nerve tissue in the spinal cord (called ataxia). The ataxia gets worse over time. It usually starts in the legs, then advances to the arms, and then to the trunk. The disease can also cause an abnormal curvature of the spine called scoliosis. Patients may also have fatigue, slurred speech, hearing loss and vision loss. Friedreich’s ataxia may also impact the heart. It most often affects the heart muscle (cardiomyopathy), which can result in heart failure.
Symptoms can begin at any age, but if they start in childhood, the disease often develops quicker. Patients will typically need to use a wheelchair within 15-20 years after symptoms appear.
What Causes Friedreich’s Ataxia?
Friedreich’s ataxia is inherited, or passed down through families, and is caused by abnormal changes in a gene known as frataxin (FXN). In Friedreich’s ataxia, there is less frataxin produced in the body. Frataxin helps the part of the cell that produces energy.
Diagnosis
The diagnosis of Friedreich’s ataxia is based on careful clinical examination, testing and genetic evaluation. Testing may include:
- Genetic Testing
- CT scan, MRI – to look at the brain and spinal cord to rule out other neurologic conditions
- EMG – to evaluate the electrical activity of muscles and nerves
- ECG – records the motion of the heart muscle
How is Friedreich’s Ataxia Treated?
Treatment has focused on attempting to improve the part of the cell, called the mitochondria, that makes energy. Skyclarys® is the most recent drug FDA-approved drug to help treat for Friedreich’s ataxia.
What is the long-term outlook for patients with Friedreich’s Ataxia?
The long-term prognosis in Friedreich’s ataxia is often determined by how much it is affecting the heart. Heart failure is the cause of death in about 60% of patients with Friedreich’s ataxia.
