Friedreich's ataxia (FRDA) is a genetic, progressive neurodegenerative movement disorder.
Understanding Friedreich's Ataxia
FRDA is a debilitating disease primarily affecting the nervous system and heart. It leads to progressive damage to the spinal cord, peripheral nerves, and cerebellum, a part of the brain that coordinates movement.
Key Characteristics
- Genetic: FRDA is inherited, meaning it's passed down through families. It's usually an autosomal recessive disorder, requiring an individual to inherit two copies of the affected gene (one from each parent) to develop the condition.
- Progressive: The condition worsens over time. Symptoms gradually increase in severity.
- Neurodegenerative: It causes the degeneration (breakdown) of nerve tissue.
- Movement Disorder: Primarily affects coordination and balance.
Onset and Symptoms
The typical age of onset is between 10 and 15 years, though it can occur earlier or later. Initial symptoms often include:
- Ataxia: Difficulty coordinating movements, leading to unsteady gait and frequent falls.
- Unsteady posture
- Fatigue
- Dysarthria: Slurred speech.
- Muscle weakness:
- Scoliosis: Curvature of the spine.
- Cardiomyopathy: Heart muscle disease.
- Diabetes: May develop in some individuals.
Cause
FRDA is caused by a mutation in the FXN gene, which codes for a protein called frataxin. This mutation usually involves an expansion of a GAA (guanine-adenine-adenine) repeat sequence within the gene. Reduced levels of frataxin lead to iron accumulation in mitochondria (the energy-producing parts of cells), which causes oxidative stress and cellular damage, particularly in nerve and heart tissue.
Diagnosis
Diagnosis typically involves a neurological examination, genetic testing to identify the FXN gene mutation, and tests to assess nerve and heart function.
Treatment
Currently, there is no cure for Friedreich's ataxia. Treatment focuses on managing symptoms and preventing complications. This may include:
- Physical therapy: To maintain strength and flexibility.
- Occupational therapy: To help with daily living activities.
- Speech therapy: To improve communication.
- Medications: To manage heart problems, diabetes, and other symptoms.
- Surgery: To correct scoliosis or other skeletal deformities.
Prognosis
The progression of FRDA varies among individuals. While some people remain mobile for many years, others may require a wheelchair. The disease can significantly shorten lifespan, primarily due to cardiac complications. However, advances in medical care are improving the prognosis for individuals with FRDA.
