Spinocerebellar degeneration

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.

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.

Images

Central nervous system

Previous Section

Friedreich's ataxia Overview

Next Section

Friedreich's ataxia Treatment

Review Date: 11/22/2010
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)