Friedreich's ataxia

Alternative Names

Symptoms

Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty, and may include:

• Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time
• No reflexes in the legs
• Abnormal speech
• Loss of coordination and balance, which leads to frequent falls
• Decrease in ability to feel vibrations in lower limbs
• Muscle weakness
• Changes in vision, particularly color vision
• Hearing loss -- occurs in about 10% of patients
• Jerky eye movements
• Foot problems, such as hammer toe and high arches

Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.

Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.

Exams and Tests

The following tests may be performed:

• ECG
• Genetic testing for the frataxin gene
• X-ray of the chest
• X-ray of the spine
• Electrophysiological studies
• EMG (electromyography)
• Nerve conduction tests
• Muscle biopsy
• X-ray, CT scan, or MRI of the head

Tests of the heart may show a condition called hypertrophic cardiomyopathy in about 66% of persons with this condition.

Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.