Friedreich’s ataxia /frēd″rīshs/ [Nikolaus Friedreich, German physician, 1825–1882] , a condition characterized by muscular weakness, loss of muscular control, weakness of the lower extremities, and an abnormal gait. It may be hereditary and exhibits both dominant and recessive inheritance patterns. The primary pathological feature is pronounced sclerosis of the posterior columns of the spinal cord with possible involvement of the spinocerebellar tracts and the corticospinal tracts. Friedreich’s ataxia usually affects individuals between 5 and 20 years of age. The highest incidence of onset is at puberty. The characteristically ataxic gait may progress to severe disability. Over a period of years a child who is affected may also have ataxia of the upper extremities and difficulty in performing simple maneuvers such as writing or handling eating utensils. The characteristic gait of this disease is caused by a cavus deformity, or clawfoot. The gait and the stance of the affected individual are unsteady. A positive Romberg’s sign may be evident, and Babinski’s sign is present with absent or decreased deep reflexes. The condition may also cause slurred speech, head tremors, tachycardia, and cardiac failure. Thoracic scoliosis is present in approximately 80% to 90% of the patients afflicted. All the signs and symptoms are progressive. There is no cure. Treatment is supportive. Orthoses may be useful to varying degrees in prevention of associated deformities and maintenance of an ambulatory status. Correction of the foot deformity allows the patient to remain ambulatory as long as possible and is performed when the disease process does not appear to be progressing, thereby reducing the potential for recurrence. Spinal fusion may correct the associated scoliosis. In progression of this disease, death usually results from myocardial failure.
