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Friedreich's ataxia

Friedreich's ataxia

Friedreich's ataxia

Friedreich’s ataxia is a hereditary, or genetic, disease caused by a defective gene called Frataxin, which causes progressive damage to the nervous system. Changes in Frataxin cause the body to produce an excess of trinucleotide repeat, which is part of DNA. In a normal body, there are eight to 30 copies of trinucleotide repeat; children diagnosed with Friedreich’s ataxia have as many as 1,000 copies.

Friedreich’s ataxia is an autosomal recessive genetic disorder which means that in order to get the disease, both mother and father must pass this gene to their child. Approximately one in 25,000 develop this disease.

Patients diagnosed with Friedreich’s ataxia slowly get worse. Most children will require a wheelchair within 15 years of the beginning of the disease.

Signs of Friedreich’s ataxia

Signs of Friedreich’s ataxia are a result of the wearing down of the areas of the brain and spinal cord that control coordination, muscle movement and sensory functions. Children usually exhibit symptoms before puberty and these symptoms may include:

  • Abnormal speech
  • Changes in vision, especially color vision
  • Inability to feel vibrations in lower limbs
  • Foot problems such as high arches and hammertoes
  • Hearing loss
  • Jerky eye movements
  • Loss of balance and coordination/frequent falling
  • Muscle weakness
  • No leg reflexes
  • Unsteady walk and uncoordinated movements, known as ataxia

Diagnosing Friedreich’s ataxia

Your child’s doctor may wish to run the following tests to diagnose Friedreich’s ataxia:

  • Genetic testing for the Frataxin gene
  • Nerve conduction tests
  • Muscle biopsy
  • Imaging including X-rays, CT Scans and MRI of the head
  • X-rays of the chest and spine

Evaluation and treatment of Friedreich’s ataxia

Shriners Hospitals for Children offers various treatment plans for children diagnosed with Friedreich’s ataxia. Depending upon the severity of symptoms, your child’s doctor will recommend the appropriate treatment. Some of the treatments offered include:

  • Physical therapy
  • Mobility aids such as canes or wheelchairs
   
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