Friedreich's ataxia - Symptom

Alternative Names

Spinocerebellar degeneration

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:

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

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.

Signs and tests:

The following tests may be performed:

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

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.

Central nervous system

Reviewed last on: 11/22/2010
Kevin Sheth, MD, Department of Neurology, University of Maryland School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Johnston MV. Movement disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 597.

Autosomal recessive

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Friedreich's ataxia - Symptom

Alternative Names

Symptoms:

Signs and tests:

References

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