Friedreich Ataxia (FRDA)
What is Friedreich ataxia?
Friedreich ataxia (FRDA) is a rare genetic disease that causes neurological and movement problems. The onset of this disorder is typically between the ages of five and 15 years. At first, the patient may show difficulty moving and slurred speech. Eventually, individuals may need a wheelchair as the disease progresses. Friedreich ataxia affects men and women equally, and affects one in about every 40,000 people in the US. A quarter of patients show symptoms after the age of 25; this is known as late-onset FRDA (LOFA). Patients that show symptoms after the age of 40 (very late-onset FRDA [VLOFA]) typically experience a slower progression of the disease.
What are the symptoms of Friedreich ataxia?
Friedreich ataxia (FRDA) symptoms include:
- Poor movement coordination (ataxia)
- Slurred speech
- Vision and hearing problems
- Diabetes mellitus
- Chest pain and shortness of breath
- Foot abnormalities
- Cardiac arrhythmia
What causes Friedreich ataxia?
Friedreich ataxia (FRDA) is caused by mutations in the FXN gene. This gene is responsible for the production of frataxin, which is needed for mitochrondrial function, which is responsible for an individual’s energy. This genetic mutation is autosomal recessive, meaning the patient needs to inherit two copies of the abnormal gene.
How is Friedreich ataxia diagnosed?
Friedreich ataxia is generally diagnosed through clinical evaluations and confirmed by genetic testing. The genetic testing looks for mutations in the FXN gene, specifically a GAA repeat mutation.
What treatment options are available for Friedreich ataxia?
Friedreich ataxia treatment aims to address symptoms of the disorder. Those treatments include:
- Genetic counseling
- Walking and mobility aids
- Surgery and non-surgical therapies for the spine
- Heart medications
- Vision and hearing medications/aids
- Speech therapy
Where can I find out more about Friedreich ataxia?