Friedreich’s Ataxia
It is named after the physician Nicholaus Friedreich, who first described the condition in the 1860s.
“Ataxia,” which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions.
Friedreich’s Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath — the insular covering on all nerve cells that helps conduct nerve impulses.
Friedreich’s Ataxia, although rare, is the most prevalent inherited ataxia. Males and females are affected equally.
Signs usually occur between 5 and 15 years of age.
The first symptom is the affected walking.
The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning inward) may be early signs. Over time, muscles begin to weaken and waste away, especially in the feet, lower legs, and hands and deformities develop. Other symptoms include loss of tendon reflexes, especially in the knees and ankles. There is often a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is easily fatigued. Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common.
Most people with Friedreich’s Ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing.
Friedreich’s Ataxia is an autosomal recessive disease, which means the patient must inherit two affected genes, one from each parent, for the disease to develop.
There is currently no cure or effective treatment for Friedreich’s Ataxia.
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