Friedreich's Ataxia

Friedreich's Ataxia

| Friedreich's Ataxia
What is Friedreich's Ataxia ?

Friedreich's ataxia is a rare genetic disorder that affects the nervous system and causes progressive damage to the spinal cord and peripheral nerves. It is named after the physician who first described the condition, Nicholaus Friedreich.


The disorder is caused by mutations in a gene called frataxin, which leads to a deficiency of this protein. Frataxin is involved in the production of energy in cells and the maintenance of iron balance in the body. Without enough frataxin, cells in the nervous system and heart muscle cannot function properly and eventually die.


Symptoms of Friedreich's ataxia typically appear during childhood or adolescence, and can include:

  • Loss of coordination and balance
  • Weakness and stiffness in the legs
  • Impaired speech
  • Vision and hearing impairment
  • Scoliosis or curvature of the spine
  • Heart problems, including arrhythmias and heart failure
  • Diabetes

treatment is focused on managing symptoms and preventing complications. Physical therapy, occupational therapy, and speech therapy can help to improve mobility, speech, and daily activities. Medications can be used to manage symptoms such as heart problems and diabetes.

Research is ongoing to develop new treatments for Friedreich's ataxia, including gene therapy and drugs that target the underlying genetic defect. It's important for individuals with Friedreich's ataxia to work closely with a healthcare team to manage symptoms and prevent complications.

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