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Friedreich’s Ataxia (FRDA)

Friedreich’s Ataxia (FRDA): Understanding the Disorder, Symptoms, and Treatment Options

Friedreich’s ataxia (FRDA) is a rare, inherited neurodegenerative disorder characterized by progressive damage to the nervous system, affecting the spinal cord, peripheral nerves, and cerebellum. It leads to impaired muscle coordination, balance issues, and sensory deficits, often manifesting in childhood or adolescence.

Causes and Pathophysiology

FRDA is caused by mutations in the FXN gene, resulting in reduced production of frataxin, a protein essential for mitochondrial function. This deficiency disrupts cellular energy production and leads to oxidative stress, contributing to the disease’s neurological and systemic symptoms.

Symptoms

Symptoms include:

• Progressive Ataxia: Difficulty walking and maintaining balance.
• Muscle Weakness: Gradual loss of muscle strength.
• Speech and Vision Impairments: Slurred speech and vision problems.
• Cardiac Complications: Hypertrophic cardiomyopathy is common and a leading cause of mortality.

Treatment

While there is no cure, treatment focuses on symptom management and slowing disease progression:

• Omaveloxolone (Skyclarys): The first FDA-approved medication for FRDA, which reduces oxidative stress and improves motor function.
• Physical Therapy: Helps maintain muscle function and coordination.
• Speech and Occupational Therapy: Enhance communication and daily living skills.
• Surgical Interventions: May be necessary for skeletal deformities or cardiac issues.

Rehabilitation and Support

Rehabilitation plays a crucial role in managing FRDA:

• Adaptive Devices: Assistive tools like walkers or modified utensils improve mobility and independence.
• Therapeutic Exercises: Low-intensity strengthening and stretching exercises help manage spasticity and prevent deformities.
• Psychological Support: Counseling may be beneficial for addressing depression and anxiety associated with chronic disability.

Conclusion

Friedreich’s ataxia presents significant challenges due to its progressive nature and lack of a cure. However, recent advancements in treatment, such as omaveloxolone, offer hope for improving quality of life and slowing disease progression.

Consult with Our Team of Experts Now!
At DrStemCellsThailand (DRSCT)‘s Anti-Aging and Regenerative Medicine Center of Thailand, we emphasize comprehensive evaluations and personalized treatment plans of Cellular Therapy and Stem Cells for managing various health conditions. If you have questions about neurological conditions such as Friedreich’s Ataxia or would like more information on our services, consult with our experts today!

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References

1. Friedreich’s Ataxia Overview – Wikipedia
2. Ataxia Treatment – Mayo Clinic
3. Friedreich’s Ataxia Treatment – CHOP
4. Friedreich’s Ataxia Management – Johns Hopkins Medicine
5. FDA Approval of Omaveloxolone – FDA
6. Friedreich’s Ataxia Symptoms & Treatment – Cleveland Clinic
7. Friedreich Ataxia Overview – NINDS
8. Friedreich’s Ataxia Information – NORD