Diagnosis
If you have ataxia, your doctor will look for a treatable cause. Besides conducting a physical exam and a neurological exam, including checking your vision, balance, coordination and reflexes, your doctor might request tests, including:
Blood tests. These might help identify treatable causes of ataxia.
Imaging studies. An MRI of the brain might help determine possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It may also show other treatable findings, such as a blood clot or benign tumor.
Lumbar puncture (spinal tap). In some cases of ataxia, this may be a helpful test. A needle is inserted into the lower back (lumbar region) between two lumbar bones (vertebrae) to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects your brain and spinal cord, is sent to a laboratory for testing.
Genetic testing. Your doctor might recommend genetic testing to determine whether a gene mutation causes one of the hereditary ataxic conditions. Gene tests are available for many but not all of the hereditary ataxias.