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Tests and diagnosis
By Mayo Clinic staffBesides conducting a physical exam and a neurological exam, including checking your memory and concentration, vision, hearing, balance, coordination and reflexes, your doctor may request these laboratory tests:
- Blood tests. Certain blood tests can confirm or exclude the suspected condition. A sample of your blood will be drawn from your arm through a needle. You may be required to fast from midnight the night before your appointment until after your blood is drawn. The specific tests will depend on the suspected cause, but most likely will include a complete blood count (CBC), which helps evaluate your overall health and detect a range of disorders, including infection and heavy metal poisoning.
- Urine tests. Examining a sample of your urine under a microscope (urinalysis) may suggest certain systemic abnormalities that can be related to some forms of ataxia. If your doctor suspects Wilson's disease, you may be asked for a 24-hour urine collection to help determine the amount of copper in your system.
- Imaging studies. A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of your brain may help determine potential causes.
- Genetic testing. Your doctor may 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.
References
- 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 Dec. 29, 2008.
- NINDS Friedreich's ataxia information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm. Accessed Dec. 29, 2008.
- NINDS Ataxia telangiectasia information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/a_t/a-t.htm. Accessed Dec. 29, 2008.
- Opal P, et al. The spinocerebellar ataxias. http://www.uptodate.com/home/index.html. Accessed Jan. 5, 2009.
- NINDS paraneoplastic syndromes information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/paraneoplastic/paraneoplastic.htm. Accessed Dec. 29, 2008.
- Jen JC, et al. Primary episodic ataxias: Diagnosis, pathogenesis and treatment. Brain. 2007;130:2484. Accessed Dec. 15, 2008.
- Ataxia telangiectasia: Fact sheet. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/ataxiaqa. Accessed Jan. 11, 2009.
- FA beginner's primer. Freidrich's Ataxia Research Alliance. http://www.curefa.org/primer.html. Accessed Jan. 11, 2009.
- Adult ataxia information for patients and caregivers. Worldwide education and awareness for movement disorders. http://www.wemove.org/ataxia/. Accessed Jan. 11, 2009.
