There’s a small part of your brain, the cerebellum, that makes it possible for you to speak, walk, write, feed yourself and learn to play a musical instrument.
When the cerebellum gets damaged, you lose control of those movements, resulting in a condition called ataxia.
Ataxia can make a person look intoxicated. They may be clumsy, have an unsteady gait or poor balance, slur their speech and struggle with tasks such as feeding themselves or buttoning a shirt.
“Ataxia means incoordination of movement, or any difficulty making accurate, precise movements,” says Hokuto Morita, MD, a UNC Health neurologist and director of UNC Health’s Ataxia Specialty Clinic. “That could mean lack of coordination with speech, walking or any movement with the limbs.”
Dr. Morita explains what causes ataxia and the current options for treatment.
Causes of Ataxia
While ataxia is the result of damage in the cerebellum, there are three basic ways to classify the cause of that damage: acquired, neurodegenerative and genetic.
Acquired ataxia means something happened in a person’s life to cause the symptoms.
“Certain medications can cause ataxia, or people might have toxicity due to excess alcohol consumption,” Dr. Morita says. “Certain vitamin deficiencies—B1, B12 and E—can cause ataxia, as can heavy metal exposures.”
Strokes, autoimmune disorders and some infections can cause ataxia. So can neurodegenerative disorders, which damage the brain and nervous system. Ataxia is often the most noticeable symptom of multiple system atrophy type C (cerebellar), a type of atypical parkinsonism, and it can be caused by some forms of dementia.
Finally, some people are born with genetic mutations that lead to ataxia.
“There are well over 50 subtypes of genetic, or hereditary, ataxia,” Dr. Morita says. “Some of them present purely with ataxia, and some with other associated symptoms, like slowness, stiffness, spasms or tremor.”
If you have a family history of genetic ataxia, you are at higher risk, but Dr. Morita says that it’s possible for gene mutations to occur without a family history.
“With genetic and neurodegenerative forms, the ataxia tends to be very slowly progressing over the course of many years,” Dr. Morita says. “With acquired ataxia, it’s usually a much shorter timeframe. Symptoms start and can progress quickly within weeks or months.”
How Ataxia is Diagnosed
Because there are so many causes of ataxia, and because severity of symptoms can vary and progress at different rates, diagnosis can be challenging. If you’re concerned about symptoms related to movement, Dr. Morita recommends seeing a neurologist, who will be able to distinguish ataxia from other disorders.
To find the cause, your doctor will order blood tests to look for acquired causes of ataxia such as vitamin deficiencies, autoimmune disorders or high levels of toxins. You’ll also likely have an MRI of your head, which will show if there’s any structural damage or shrinking of the cerebellum. Genetic testing may be recommended.
Treatment for Ataxia
Identifying the cause of ataxia is important to development of a treatment plan.
“Acquired ataxia is sometimes completely treatable,” Dr. Morita says. “If it’s the result of a vitamin deficiency, you replenish those vitamins and the symptoms improve. If the cause is an autoimmune disorder, ataxia usually gets better when you start an immunosuppressant medication.”
Currently, only one form of genetic ataxia—Friedreich’s ataxia—has an FDA-approved medication for treatment (omaveloxolone, brand name Skyclarys). The medication riluzole may have some mild benefit for some forms of genetic ataxia but is not currently FDA-approved, Dr. Morita says.
Otherwise, medication is available only to treat specific symptoms of genetic or neurodegenerative ataxia, such as muscle spasms, muscle rigidity, abnormal cramping or posturing called dystonia, abnormal eye movements and dizziness.
“Even though we don’t have specific treatment for ataxia, we do have interventions for slowing the progression and improving quality of life,” Dr. Morita says. “What has shown the greatest benefit are intensive rehabilitation therapies—physical therapy, occupational therapy and speech therapy combined with exercise.”
If you’re diagnosed with ataxia, it’s helpful to visit a doctor or clinic that specializes in ataxia—the National Ataxia Foundation maintains a list—to get information on therapies that will help in your specific situation.
“In our specialty clinic, you spend an hour with every therapist during the visit, so they have the time to go through your entire day and all your activities,” Dr. Morita says. “They find ways to help improve function through specific exercise or adaptive devices.”
UNC Health’s facilities include a model kitchen, where someone who wants to continue to cook for themselves can practice those skills safely. You might work on walking in a harness or exercise on a balance machine to reduce your risk of falling.
The different forms of genetic ataxia progress at different rates—after genetic testing, your doctor will be able to tell you more about what to expect with your specific case. You may need to see additional specialists if ataxia affects other organ systems like your heart or vision.
“There will be a continued decline in the ability to make coordinated movements, a decline in balance, the ability to walk, in speech intelligibility, but it tends to progress slowly, over decades,” Dr. Morita says.
In the future, gene therapy to address specific mutations may be possible.
“With gene therapy, promising things are on the horizon, but that’s in the very earliest phases of research,” Dr. Morita says. “For the short term, intensive rehab therapy will be the most important thing to maintain quality of life.”
If you’re concerned about symptoms related to movement, talk to your doctor. If you need a doctor, find one near you.