Ataxia refers to a relatively rare group of diseases that cause impaired motor coordination, most often by affecting the part of the brain called the cerebellum. This can lead to gait imbalance, imprecise arm movements, slurred speech, eye movement abnormalities, and swallowing difficulties. Although other conditions can affect the cerebellum and cause incoordination, such as head trauma, stroke, tumors, or multiple sclerosis, the term "ataxia" is generally used for diseases that don't fit into these other categories. Most ataxias are neurodegenerative, meaning that the cerebellum is diseased and degenerates over time. Symptoms therefore tend to be progressive. There are many causes of ataxia, including a number of autoimmune diseases, vitamin deficiencies, and idiopathic forms. Many people with ataxia have a genetic cause, with a mutation in one of the ~400 genes have been reported to cause ataxia. Given the wide variety of subtypes and relative rarity of ataxia, this is a disease that is usually best evaluated at an academic center such as Emory.
The diagnosis of ataxia begins with a thorough history and examination. The rate of progression and specific clinical features can help to guide which specific tests are done, but in almost every circumstance the work-up includes a brain MRI and blood tests to look for treatable causes. Many ataxias are due to genetic mutations, so a detailed family history is important and genetic testing is sometimes obtained. Ancillary tests such as EEG, EMG, spinal tap, or additional imaging is sometimes required.
Treatment for ataxia can be categorized as disease-modifying (those that make the brain healthier, ie lessen the disease) or symptomatic (those that improve symptoms without lessening the disease). Unfortunately, there are only a few forms of ataxia for which disease-modifying treatments are available. Symptomatic treatment for the motor incoordination of ataxia is sometimes attempted, but medication rarely provides substantial benefit. Better results are usually obtained by aggressive physical, occupational, and speech therapy. Treatment is also available for symptoms that are sometimes associated with ataxia, such as depression, impaired bladder control, and muscle spasms.
Why Choose Emory?
Emory has specialized expertise in ataxia and has one of the busiest ataxia clinics in the country. The clinic is led by Dr. George Wilmot, one of only a handful of neurologists in the country who specializes in this rare condition. Dr. Wilmot provides care for hundreds of ataxia patients each year, and these patients benefit not only from his expertise but also from the shared expertise of other Emory providers who frequently become involved in the care of ataxia patients. Dr. Wilmot is a member of the Medical Research Advisory Board of the National Ataxia Foundation and is a founding member of 2 consortia of ataxia specialists, the Clinical Research Consortium in Spinocerebellar Ataxia and the Collaborative Clinical Research Network in Friedreich's Ataxia. At Emory, he leads an active clinical research program in the ataxias that includes natural history studies and clinical trials for spinocerebellar ataxia and Friedreich's ataxia.