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Friedreich’s ataxia
- Friedreich’s ataxia, a disease that causes damage to the nervous system as well as speech impairment and movement problems.
- Friedrich’s ataxia starts during childhood and manifests later as impaired muscular coordination that worsens with age.
- It is caused by an inherited aberrant gene.
- We all carry two copies of every gene, each inherited from a parent. Friedrich’s ataxia occurs when both copies of the FXN genehave the defect.
- The defective FXN gene causes a problem in producing a protein called frataxin, which is found in cells throughout the body, with the highest levels in the heart, spinal cord, liver, pancreas, and muscles used for voluntary movement.