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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 © 2024 EBSCO Publishing All rights reserved.