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Friedreich's Ataxia

Friedreich's ataxia is a rare, inherited, degenerative disease that affects the nervous system and the heart. It is named after the German physician Nikolaus Friedreich, who first described the condition in the 1860s. This article provides an overview of the disease, including its symptoms, causes, diagnosis, and treatment options.

Symptoms

Friedreich's ataxia typically begins in childhood or early adulthood, with symptoms usually appearing between the ages of 5 and 15. The progression and severity of symptoms can vary widely among individuals. Common symptoms include:

• **Ataxia**: A lack of coordination and balance, often leading to difficulty walking.
• **Dysarthria**: Slurred or slow speech due to lack of coordination in the muscles used for speaking.
• **Muscle weakness**: Particularly in the legs, which can lead to difficulty with mobility.
• **Loss of sensation**: Especially in the extremities, such as the feet and hands.
• **Scoliosis**: Curvature of the spine.
• **Heart problems**: Such as hypertrophic cardiomyopathy, which can lead to heart failure.
• **Diabetes mellitus**: Some individuals may develop diabetes as a complication.

Causes

Friedreich's ataxia is caused by mutations in the FXN gene, which provides instructions for making a protein called frataxin. Frataxin is essential for the proper functioning of mitochondria, the energy-producing structures within cells. The most common mutation is a GAA trinucleotide repeat expansion in the FXN gene, which leads to reduced levels of frataxin.

Diagnosis

Diagnosis of Friedreich's ataxia is based on a combination of clinical evaluation, family history, and genetic testing. Key diagnostic steps include:

• **Neurological examination**: To assess coordination, reflexes, and muscle strength.
• **Genetic testing**: To confirm the presence of the GAA repeat expansion in the FXN gene.
• **Electromyography (EMG)**: To evaluate the electrical activity of muscles.
• **Magnetic resonance imaging (MRI)**: To visualize the brain and spinal cord.
• **Echocardiogram**: To assess heart function and detect any abnormalities.

Treatment

There is currently no cure for Friedreich's ataxia, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• **Physical therapy**: To improve mobility and prevent muscle contractures.
• **Speech therapy**: To address speech difficulties.
• **Orthopedic interventions**: Such as braces or surgery to correct scoliosis.
• **Medications**: To manage heart problems and diabetes.
• **Assistive devices**: Such as wheelchairs or walkers to aid mobility.

Research and Future Directions

Research is ongoing to better understand Friedreich's ataxia and develop new treatments. Areas of investigation include:

• **Gene therapy**: To correct the underlying genetic defect.
• **Pharmacological approaches**: To increase frataxin levels or improve mitochondrial function.
• **Stem cell therapy**: To replace damaged cells and tissues.

See Also

• Ataxia
• Hypertrophic cardiomyopathy
• Genetic disorders