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Friedreich's Ataxia Symptoms & Diagnosis

Symptoms

Symptoms may vary. The following list describes the most common symptoms:

Early Symptoms

  • Age of onset: under the age of 25, usually in the early teenage years
  • Progressive leg weakness (eg, difficulty walking)
  • Ataxia—incoordination and imbalance affecting limbs and gait
  • Impaired sensation—especially "position sense" in the feet
  • Loss of tendon reflexes in the legs
  • Heart failure and diabetes develop as the disease progresses

Late Symptoms

  • Difficulty speaking and swallowing—decreased coordination of the tongue
  • Loss of tendon reflexes in all limbs
  • Atrophy of muscles
  • Scoliosis —curving of spine (affects 85% of people with this condition)
  • Foot deformities
  • Foot ulcers
  • Confined to a wheelchair (by age 45, occurs in 95% of those affected)
  • Hearing loss and or vision loss (over 10% of those affected)
  • Eye movement abnormalities
  • Movement disorders (eg, tremor, dystonia, chorea)

Diagnosis

Your doctor will ask about your symptoms, including medical history, family history, and medications. Your doctor will also perform a physical exam. If this disorder is suspected, you may also see a neurologist, a doctor who specializes in the nervous system.

Tests may include:

  • EMG and nerve conduction studies —a test to assess the function of the muscles and nerves
  • Computerized tomography —a test that uses a computer to make cross-sectional images of the head
  • MRI scan —a test that uses magnetic waves to make pictures of structures inside the brain and spinal cord
  • Electrocardiogram and 24-hour holter monitoring —a test that assesses the electrical activity of the heart
  • Echocardiogram —a test that uses high-frequency sound waves (ultrasound) to examine the size, shape, and motion of the heart
  • Genetic testing for the frataxin gene
  • Blood (diabetic testing) and urine tests
  • Sural nerve biopsy

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition. Copyright © 2019 EBSCO Publishing All rights reserved.

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