1. Identify Physical Symptoms
Friedreich's ataxia is a progressive chromosomal disorder in which your nerve tissue breaks down, making it difficult or impossible--in the later stages of the disease--for your nerve cells to conduct impulses that help you move. Most people are in the middle years of their childhood (between 8 and 15 years old) when they are diagnosed with Friedreich's ataxia.
The primary symptom of Friedreich's ataxia is a lack of coordination--walking unsteadily, having trouble keeping your balance and falling down frequently. Your muscles will become weak, and you may not have any reflexes in your legs. The muscles in your face may be affected, making your speech hard to understand. Nerve and muscle cells can be affected, contributing to jerky eye movements and some loss of vision. In addition to the degeneration of your nervous system, you are likely to develop scoliosis, diabetes and heart disease if you have this form of ataxia.
2. Undergo Diagnostic Testing
A wide range of tests can help diagnose Friedreich's ataxia, including nerve-conductor tests that measure how quickly your body transmits nerve impulses. Your doctor may perform an electromyogram (EMG), a test that measures the level of electrical activity in your muscle cells. You may have an electrocardiogram or an echocardiogram to look for abnormalities in your heart. MRI tests allow your doctor to see your brain and spinal cord, as well as the level of damage to these areas of your body.
3. Undergo Genetic Testing
In order to diagnose Friedreich's ataxia accurately, you'll have a blood test that will check the gene, named Frataxin, that is affected by this disease. The human body makes a substance called GAA, and has between seven and 30 copies of it. When the Frataxin gene is mutated, your body replicates GAA too many times, and you develop Friedreich's ataxia. A genetic test can tell you how many copies your body has. The more copies of GAA you have, the more likely you are to have an earlier onset and more pronounced symptoms of the disease.
