Diagnosis of Ataxia

Being diagnosed with Ataxia can be overwhelming. Below are a few frequently asked questions that can help you to understand ataxia better.

What is Ataxia?

The word "ataxia", comes from the Greek word, " a taxis" meaning "without order or incoordination". The word ataxia means without coordination. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. Ataxia may affect the fingers, hands, arms, legs, body, speech, and eye movements. The word ataxia is often used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias which are the National Ataxia Foundation's primary emphases.

How is Ataxia Diagnosed?

Diagnosis is based on a person's medical history, family history, and a complete neurological evaluation including an MRI scan of the brain. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ataxia gene known to affect other family members.

What are Common Symptoms?

Symptoms and time of onset vary according to the type of ataxia. In fact there are often variations even within the same family with the same type of ataxia. Recessive disorders commonly cause symptoms to begin in childhood rather than adulthood. However, in recent years since genetic testing became available, it is now known the Friedreich's ataxia has an adult onset on some occasions. Dominant ataxia often begins in the 20s or 30s or even later in life. Sometimes individuals may not show symptoms until they are in their 60s.

Typically balance and coordination are affected first. In coordination of hands, arms, and legs, and slurring of speech are other common symptoms. Walking becomes difficult and is characterized by walking with feet placed further apart to compensate for poor balance. Impaired coordination of the arms and hands affect a person's ability to perform tasks requiring fine motor control such as writing and eating. Slow eye movements can be seen in some form of ataxia. As time goes on, ataxia can affect speech and swallowing.

The hereditary ataxias are degenerative disorders that progress over a number of years. How severe the disability will become and whether the disease will lead to death depends on type of ataxia, the age of onset of symptoms and other factors that are poorly understood at this time. Respiratory complications can be fatal in a person who is bed bound or who has severe swallowing problems. Some persons with Friedreich's ataxia develop serious cardiac problems.

What is Sporadic Ataxia?

There is a large group of people who have symptoms of ataxia that usually begin in adulthood and who have no known family history of this disease. This is called sporadic ataxia and it can be difficult to diagnose. There are many acquired and hereditary causes of ataxia which must be ruled out before a diagnosis of sporadic ataxia can be made. Sporadic ataxia can be either "pure cerebellar" if only the cerebellum is affected or cerebellar plus, if the ataxia is accompanied by additional symptoms such a neuropathy (dysfunction of the peripheral nerves); dementia (impaired intellectual function); or weakness, rigidity, or spasticity of the muscles. Disability may be greater and progress more quickly with the cerebellar plus form of sporadic ataxia. The cerebellar plus form of sporadic ataxia is also known as sporadic olivopontocerebellar ataxia ( sporadic OPCA) or multiple system atrophy, cerebellar type (MSA-C).

Ataxia as a Symptom

For people who have ataxia as a symptom of other medical conditions such as head injury, stroke, MS, alcoholism, etc., we recommend that you contact the organization related to your specific condition for the most up-to-date and accurate information.

How do I Get More Information?

The hereditary and sporadic ataxias are a complex group of diseases and this information is but a brief overview. You are welcome to download the ataxia information sheets from this website or contact the National Ataxia Foundation for additional information on hereditary and sporadic ataxias as well as more information on the genetics involved. This information is not intended in any way to replace information you have received from your doctor(s). Please note that we cannot answer specific questions concerning your situation, recommend drugs or suggest diagnosis. Please discuss these concerns with your doctor.