ICAT: Ataxia, Frequently Asked Questions

What is ataxia?

Ataxia is a neurological symptom related to being uncoordinated, which presents as slurred speech, and impaired walking (including stumbling, and falling). Ataxia is caused by dysfunction of the brain region responsible for coordination, called the cerebellum. The cerebellum can be affected by a variety of factors leading to ataxia. These factors include poor nutrition, the improper function of the immune system, and neurodegeneration, as well as genetic factors. The onset of ataxia can vary from person to person, depending on the causes. Ataxia can present in childhood and all the way to late adulthood.

What causes ataxia?

The causes of ataxia are diverse because many factors may influence cerebellar function. The cerebellum is a brain region of high energy demand and thus requires exquisite energy balance, making it vulnerable to many types of susceptibilities, ranging from nutritional, immune-mediated, degenerative, and genetics. Depending on the age of onset, younger patients are more likely to have genetic causes of ataxia whereas degenerative causes of ataxia often occur in older patients. Nutritional and immune-mediated causes of ataxias can happen in a wide range of patients. To reach the diagnosis of an exact cause of ataxia can be a complicated process, which sometimes requires extensive medical tests by an ataxia specialist. Nonetheless, it is very important to have an accurate diagnosis, which can lead to personalized treatment based on the cause and as well as the participation in clinical trials.

What are the symptoms of ataxia?

The common feature of ataxia is lack of coordination. The cerebellum, which controls motor movements throughout the body, is responsible for the symptoms seen in ataxia due to the cerebellum controlling the motor movements throughout the body. Therefore, individuals living with ataxia may have blurry or double vision, slurred speech, loss of hand dexterity or tremor, and difficulty in running or walking. The early symptoms for ataxia may be difficulty in walking up and down stairs without holding on, difficulty in wearing high-heel shoes, and difficulty walking on an uneven surface, such as on the beach. In the later stages of ataxia, frequent falling and difficulty with swallowing might occur. Individuals living with ataxia might walk as if drunk, even if not intoxicated.

How does a physician diagnose the cause of ataxia?

A neurologist will perform an examination and determine the presence of ataxia symptoms, which indicate impairment in the cerebellum or its associated pathways in the nervous system. Depending on the age of onset, the presence of a family history of ataxia, and the associated neurological symptoms, neurologists will order diagnostic tests, such as blood tests, neuroimaging, such a magnetic resonance imaging (MRI) of the brain, or cerebrospinal fluid (CSF) analysis to pinpoint the causes of ataxia. Genetic tests in the blood or muscles might be important to determine the cause of genetic ataxia.

How is ataxia treated?

Ataxia treatment can be divided into symptomatic therapy and disease-modifying therapy. While there is no FDA-approved treatment for ataxia symptoms, several medications have been tested and shown to be effective in helping balance, speech, hand dexterity, and eye movements in ataxia patients. In addition, balance exercises and aerobic exercise have been shown to effectively improve ataxia symptoms. Therefore, working with your ataxia specialist is critical to formulating an individually tailored regimen to treat ataxia symptoms.

There are some disease-modifying treatments for ataxia, particularly those with nutritional and immune-mediated causes. Even several genetic causes of ataxia already have disease-specific treatment to normalize the underlying metabolic pathways. For other genetic or degenerative ataxias, several clinical trials are underway, and many ataxia patients form collaborative forces, by working with their ataxia expert and pharmaceutical companies for novel therapy development. This is one of the most promising areas of neurology.