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 memory and concentration, vision, hearing, balance, coordination, and reflexes, your doctor might request laboratory tests, including:

  • Imaging studies. A CT scan or MRI of your brain might help determine potential 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, that could be pressing on your cerebellum.
  • Lumbar puncture (spinal tap). A needle is inserted into your lower back (lumbar region) between two lumbar bones (vertebrae) to remove a 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 you or your child has the gene mutation that causes one of the hereditary ataxic conditions. Gene tests are available for many but not all of the hereditary ataxias.
March 14, 2017
References
  1. NINDS ataxias and cerebellar or spinocerebellar degeneration information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm. Accessed Oct. 26, 2016.
  2. Todd PK. Overview of cerebellar ataxias in adults. http://www.uptodate.com/home. Accessed Oct. 26, 2016.
  3. Perlman SL. Evaluation and management of ataxic disorders: An overview for physicians. National Ataxia Foundation. http://www.ataxia.org/resources/publications.aspx. Accessed Oct. 26, 2016.
  4. Ataxia telangiectasia. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/ataxia-fact-sheet. Accessed Oct. 26, 2016.