What's Friedreich's ataxia?
Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. In many cases, this disorder also affects the heart, certain bones and cells in the pancreas that produce insulin. The illness
typically begins with difficulty walking. People with Friedreich's ataxia develop clumsy, shaky movements of the legs (called gait ataxia) during childhood or early adolescence. (In rare cases, symptoms appear in infants and in middle-aged adults.) As the disease gets worse, people may develop bony deformities of the spine and feet, loss of sensation in the limbs, speech problems, abnormal eye movements, heart disease and diabetes.
Ataxia is a condition marked by impaired coordination. Friedreich's ataxia is the most common inherited ataxia, affecting between 3,000-5,000 people in the United States. FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy will not show signs of FA, but may pass along the gene to offspring. Couples with one child affected by FA have a 25% chance in each pregnancy of conceiving another affected child. |