Newly Diagnosed: Taking the First Step on Your Journey
Becoming educated is a good place to start on your journey with Friedreich’s ataxia. Whether you are a patient or a caregiver, knowing as much as possible about the disease will help you be a more active participant in your or your loved one’s healthcare. Learn more below about Friedreich’s ataxia, its causes, its symptoms, and how it’s diagnosed.
Friedreich’s ataxia (FA) is a rare, inherited, progressive disease of the nerves and muscles that causes loss of control of body movements, or ataxia. The first sign of FA is usually difficulty walking due to the loss of voluntary coordination of leg muscles.
FA begins in the lower body and spreads to the upper body, including the arms and hands, and then to the trunk. The genetic defect that causes nerve damage and muscle incoordination also affects the eyes, hearing, and speech. A person with FA will usually need a wheelchair within 10 years of symptoms appearing.
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People who develop FA inherit defective copies of the FXN gene, which provides instructions for making a protein called frataxin. This leads to a loss in frataxin production, resulting in damage to the nerves that carry signals from the muscles to the brain.
For a child to develop FA, they must inherit two copies of the defective gene, one from each parent. In most cases, neither parent shows signs of FA, so they are often not aware that the disease runs in the family.
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In determining if a patient has FA, doctors will first review their symptoms and medical records, and check for a family history of neuromuscular disorders. They will also perform a thorough physical examination, especially of the heart, and neurological examination, especially of the legs, arms, and eyes.
A variety of tests may help diagnose FA, including nerve conduction tests, electromyogram, electrocardiogram, echocardiogram, MRIs, and blood and urine tests.
The most definitive method to confirm a diagnosis is through genetic testing, which analyzes the FXN gene sequence to look for the expanded GAA repeat, which is responsible for the disease.
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FA affects many organs, resulting in a range of symptoms, the most common of which is loss of coordination and movement, or ataxia. Difficulty walking is typically one of the first symptoms to appear. Mental capacities are not affected in FA.
Other symptoms include difficulty speaking or slurred speech, known as dysarthria, and dysphagia, or problems with swallowing. Many patients also develop skeletal issues, primarily scoliosis, as well as heart disease and diabetes.
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