An ataxia diagnosis requires a careful series of tests to determine the nature of a patient’s balance disorder and determine if it is a primary medical problem or a symptom of another medical condition. Testing can include patient interviews, the collection of body fluids, and medical imaging studies to learn more. General practitioners usually refer their patients to a neurologist for evaluation once they have ruled out obvious causes of ataxia and the patient clearly needs more advanced treatment. Understanding the condition is important for making appropriate treatment recommendations.
The first step in an ataxia diagnosis is a detailed patient interview to check for causes and risk factors. People will be asked to describe the symptoms and the pattern of onset, and can also discuss family history as well as whether they use alcohol or medications. Sometimes a patient is on a medication known to cause balance problems, for example, in which case further evaluation may not be necessary. This information may need to be repeated to several medical providers and it may help to write it up in a comprehensive document.
Blood and urine samples may be taken to check for exposure to toxins and other potential factors in an ataxia diagnosis. If these appear normal, a lumber puncture to collect a sample of cerebrospinal fluid may be required. Imaging of the brain and spinal cord can also provide insight into the patient’s condition, as can nerve conduction studies to check for problems with the peripheral nervous system. Test results can be pulled together to rule out potential causes or types of ataxia, or to categorically identify a specific condition.
In some cases, genetic testing may be recommended as part of an ataxia diagnosis. Some forms of ataxia are genetic, and other genetic disorders can cause balance problems among other symptoms. The testing can show whether the patient is carrying deleterious genes that might be causing the problem. Ataxic patients with a family history of balance disorders associated with positive genetic test results, for example, probably have a familial ataxia.
Treatment options after an ataxia diagnosis can depend on the cause. Some patients can receive supportive care like physical therapy, mobility aids, and help with tasks of living like bathing. Others may benefit from surgery or medications to treat the ataxia or the underlying cause. If it is caused by environmental exposure to a toxin, cleaning up the site or wearing protection when working in that environment in the future could help the patient stabilize. Once a patient has a diagnosis, it can help to seek out a specialist familiar with that specific form of ataxia to get the most treatment options.
