The word “ataxia” is used to refer to a group of symptoms (poor motor coordination, balance difficulties, speech problems, among others), as well as to identify certain diseases of the nervous system. Thus, you may come across the term “ataxia” meaning a set of symptoms, or as part of the name of a disease, such as “ataxia-telangiectasia.”

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In general, ataxia is related to poor balance while walking and impaired coordination of movements, which can also affect the arms, eyes, speech (dysarthria), and swallowing. However, many non-motor symptoms may also occur, including cognitive and emotional symptoms. The word comes from Greek: a- (without) + táxis (order), describing this very "disorder" in motor control.

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Many forms of ataxia are progressive—that is, the symptoms worsen over time. Some forms lead to the need for a cane or wheelchair. In certain cases, cognition or other systems of the body (such as the heart, liver, or immune system) may also be affected. Some ataxias have genetic causes and are hereditary, while others are acquired due to various reasons.

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There are many different types of ataxia. These are considered rare diseases (a rare disease is defined as one that affects up to 65 people per 100,000; some types of ataxia affect only 2 or 3 people per 100,000—or even fewer—making them very rare).

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Some types of ataxia with notable prevalence in Brazil include Friedreich's ataxia (FA), whose symptoms usually appear in childhood or adolescence, and the spinocerebellar ataxias (SCAs), whose symptoms generally emerge in adulthood (though there are exceptions). Among the SCAs, the most prevalent type in Brazil is spinocerebellar ataxia type 3 (SCA3), formerly known as Machado-Joseph disease. The Ataxia Map page provides a summary of the main types, and detailed information sheets on the most common forms of ataxia are also available here on ataxia.info.

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Diagnosing ataxia can be difficult, expensive, and time-consuming. It involves a detailed neurological evaluation, family history analysis, imaging exams (such as brain MRI), and specific genetic tests to confirm genetic mutations.

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There is currently no cure for hereditary ataxias or for most acquired forms. Available treatments are palliative—aimed at relieving symptoms and improving quality of life. Neurological physiotherapy, speech therapy, neurological follow-up, occupational therapy, and psychosocial support are all extremely important. Although there is still no cure, Friedreich’s ataxia has one medication available (approved by ANVISA) that slows the progression of symptoms. For the other types, science is advancing in the search for drugs and therapies that could modify the course of these diseases.