Friedreich's Ataxia
Friedreich's ataxia is a rare inherited condition that affects the nervous system and the heart.
Overview
Friedreich's ataxia is a rare inherited condition that affects the nervous system and the heart. It causes progressive problems with balance, coordination and movement. Over time, it can also affect speech, sensation and heart function. The condition usually begins in childhood or adolescence, although it can sometimes start later. Friedreich's ataxia is not caused by injury or infection. It is a genetic condition present from birth, even though symptoms may not appear until later.
Causes and Genetics
Friedreich's ataxia is caused by changes (mutations) in the FXN gene. This gene provides instructions for making a protein called frataxin, which is important for energy production within cells. When frataxin levels are low, certain cells, particularly nerve cells and heart muscle cells, do not function properly and gradually become damaged. Friedreich's ataxia is inherited in an autosomal recessive pattern. This means a person must inherit two altered copies of the gene (one from each parent) to develop the condition. Parents who carry one altered copy are known as carriers and usually do not have symptoms.
Symptoms and Features
Symptoms usually develop between the ages of 5 and 15 years but can begin earlier or later. The condition is progressive, meaning symptoms gradually worsen over time.
Characteristic Symptoms and Features
- Balance and coordination problems (ataxia): unsteady walking, frequent falls and difficulty with coordination are often the earliest signs
- Speech changes: speech may become slow or slurred over time
- Reduced sensation: loss of vibration and position sense in the feet and legs, making balance more difficult
- Muscle weakness: particularly affecting the legs
- Spinal curvature (scoliosis): abnormal curvature of the spine may develop
Other Associated Symptoms and Features
- Heart involvement: thickening of the heart muscle (cardiomyopathy) is common. This may cause palpitations, chest discomfort, shortness of breath or fatigue. In some cases, heart rhythm problems can occur
- Diabetes: some individuals develop diabetes due to problems with insulin production
- Foot deformities: high-arched feet (pes cavus) are common
Most individuals will eventually require mobility aids such as a wheelchair. The rate of progression varies between individuals.
Treatment
Care usually involves a multidisciplinary team and may include: physiotherapy to maintain strength and mobility; speech and language therapy; monitoring and treatment of heart problems; management of diabetes if present; orthopaedic care for scoliosis or foot problems; occupational therapy and mobility aids. Regular monitoring of heart health and blood sugar levels is important. Patients are usually managed through specialist neurology centres.
Research and Future Directions
Ongoing research is focused on improving treatments that increase frataxin levels, protect nerve cells and heart cells, and slow disease progression. Gene therapy and other targeted treatments are being studied. Researchers are also working to better understand long-term outcomes and improve quality of life for people living with Friedreich's ataxia.