Friedreich ataxia

Friedreich ataxia Latest News

A new study from researchers at the University of Oklahoma Health Sciences Center found that Friedreich’s ataxia is caused when a gene called FXN becomes mutated.

About Friedreich ataxia

• It is a rare, inherited disorder that causes progressive damage to the nervous system. 
• The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs.  

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Friedreich ataxia Cause

• It is caused when a gene called FXN becomes mutated. 
• The FXN gene codes for a protein called frataxin. Frataxin is essential for mitochondria, which are our cells’ powerhouses. 
• The chemical ATP, which is the cell’s energy currency, is made mostly in the mitochondria. 
• Nerve, spinal cord, brain, and heart muscle cells use a lot of energy. 
• When their frataxin levels become abnormally low, the mitochondria produce ATP less effectively and also accumulate toxic by-products. 
• This renders the cell dysfunctional, leading to the symptoms of FA. 
• Individuals who inherit two defective copies of the FXN gene, one from each parent, will develop the disease. 
• A person who inherits only one abnormal copy of the gene is called a carrier.  
• Most of the affected individuals come from consanguineous marriages. That is, marriages between relatives, such as uncles and nieces, or between cousins. 

Friedreich ataxia Symptoms

• Symptoms usually begin between the ages of 5 and 15. 
• The main symptom is ataxia, which means trouble coordinating movements. 
• Specific symptoms include: 
  • Difficulty walking
  • Muscle weakness
  • Speech problems
  • Involuntary eye movements
  • Scoliosis (curving of the spine to one side)
  • Heart palpitations, from the heart disease, which can happen along with Friedreich ataxia
• People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. 
• In severe cases, people become incapacitated.  

Friedreich ataxia Treatment 

• There is currently no cure for FA. 
• Treatment focuses on easing symptoms and maintaining comfort and function for as long as possible. 

News: TH