What is ataxia?
Ataxia is a condition of the nervous system that causes people to lose control of muscle movement and coordination. People with ataxia have trouble controlling muscles in their arms and legs, which can make it difficult to walk and keep their balance, increasing their risk of falling. They may also have problems with speech and vision.
The term ataxia primarily describes a set of symptoms that happens after losing muscle control. Ataxia can be a symptom of another condition or can happen on its own.
Types of ataxia
There are several types of ataxia, which are grouped based on what causes them:
Acquired ataxia: Happens as a symptom of a specific condition. Conditions that can cause a person to develop ataxia include:
- Alcoholism
- Angelman syndrome
- Brain and spinal cord tumors
- Diseases that affect the body’s ability to process energy (such as mitochondrial disorders)
- Bacterial or viral infection
- Multiple sclerosis and other diseases of the immune system
- Peripheral neuropathy
- Stroke
- Vitamin deficiencies
Some prescription medicines and exposure to toxins can also cause acquired ataxia. Always follow label instructions and guidance from a doctor when using prescription medicines.
Hereditary ataxia: Passes down from parents to children through a genetic variation (mutation). Hereditary ataxia can be inherited in an autosomal recessive pattern. This means a person must inherit two copies of the affected gene, one from each parent, to have the disease. Examples of these types of ataxias are ataxia telangiectasia and Friedreich ataxia.
Hereditary ataxia can also be inherited in an autosomal dominant pattern. In these cases, a different set of gene variants cause the condition, and a person only needs to inherit one copy of the affected gene from either parent to have the disease. Examples of these types of ataxias are episodic ataxia and spinocerebellar ataxia.
Some mitochondrial diseases that cause ataxia are passed down from mothers to their children.
Sporadic ataxia: Happens because of spontaneous genetic variations, which can happen before birth or even during adulthood—these gene changes aren’t passed down from parents to children.
Different types of ataxia can also be grouped based on location:
- Cerebellar: These types of ataxias happen because of a problem in the cerebellum, which is a part of the brain that coordinates and regulates movement. Most disorders that result in ataxia cause cells in the cerebellum to break down in a process called cerebellar degeneration. When the spine is also affected, the breakdown process is instead called spinocerebellar degeneration.
- Sensory: These types of ataxias affect the body’s “self-sensing” sense, which helps the brain keep track of body parts. This sense is how people can tell where their hands and feet are even when they can’t see them.
- Vestibular: These types of ataxias happen because of problems in the vestibular organs of the inner ear, which help with balance.
How is ataxia diagnosed and treated?
Diagnosing ataxia
Many different conditions and disorders can cause ataxia. Doctors may need to run a series of tests to identify the cause of a person’s ataxia. These tests can include:
- Blood tests, which can help identify treatable causes of ataxia—such as vitamin deficiencies or infection.
- Imaging tests, such as MRI (magnetic resonance imaging). These tests can help show possible degeneration in the brain, blood clots, or tumors that can cause ataxia.
- A spinal tap (lumbar puncture) to test cerebrospinal fluid to diagnose swelling or an infection of the brain and spinal cord.
- Genetic testing, which can identify some types of hereditary ataxia.
Find out more about neurological diagnostic tests and procedures.
Treating ataxia
Talking with a doctor is the best first step to treating ataxia. They can help diagnose what’s causing a person’s ataxia and then recommend treatment based on that diagnosis. Treatment often involves care with different providers—treatment centers with quality care usually have an “Ataxia Center of Excellence” designation.
The treatment and outlook for ataxia depends on its underlying cause. People with ataxia can take medicine to manage and treat symptoms. Treatment for underlying conditions can also help reduce ataxia symptoms.
For example, vitamin supplements can treat vitamin deficiencies that cause ataxia. Or if multiple sclerosis causes a person’s ataxia, they can take the FDA-approved drug, dalfampridine, to improve walking speed.
People with ataxia can make some lifestyle changes to reduce its effects and help manage balance and movement problems. Physical therapy can help strengthen muscles and assistive devices can help people with walking and performing other activities of daily life. Speech therapy can help with problems speaking and swallowing.
Currently, there is no cure for hereditary ataxias. But the FDA recently approved a drug, omaveloxolone, that can help treat Friedreich ataxia in people 16 and older.
What are the latest updates on ataxia?
NINDS, a part of the National Institutes of Health (NIH), is the leading federal funder of research on the brain and nervous system, including ataxia and conditions that cause it. NINDS supports new and innovative research to better understand, diagnose, and treat ataxia.
Many NINDS-funded research projects focus on understanding hereditary ataxia and changes in the genes and proteins of people with ataxia. Current clinical studies recruiting people with rare neurological disorders may help researchers better understand the genetic causes of ataxia.
NINDS research is also exploring new methods to identify types of ataxia earlier. Research using computers may help identify early symptoms of ataxia and predict symptom progression over time. Another study is looking for ataxia biomarkers—biological signs of the condition that can be found and measured.
Physical therapy is a promising treatment for cerebellar degradation and the types of ataxia it can cause. Current research will test the effects of physical therapy on the brains of people with ataxia to improve future treatment. In one current clinical study, people with ataxia will undergo either balance or aerobic training. Researchers will compare the effects of the two types of training on the brain, which may lead to better physical therapy for ataxia patients.
General research to better understand the ways that the brain controls movement may help researchers better understand the causes and identify treatments for ataxia. NINDS-funded research is exploring how signals from the cerebellum control movement. Current studies on the brains of fruit flies and mice will provide information on how brains send and receive signals.
Additional studies will look at the cellular causes of ataxia. Many people with ataxia have damage to a particular type of neuron in the cerebellum, called Purkinje cells. Research projects are currently underway to study if and how Purkinje cells may cause ataxia.
For more information on research about ataxia, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects.
For research articles and summaries on ataxia, search PubMed, which contains citations from medical journals and other sites.
How can I or my loved one help improve care for people with ataxia?
Consider participating in a clinical trial so clinicians and scientists can learn more about ataxia and cerebellar or spinocerebellar degeneration and related disorders. Clinical research with human participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research, visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with ataxia at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.
Where can I find more information about ataxia?
Information may be available from the following sources: