Ataxia

About

What is ataxia?

Ataxia is a term for lack of coordination and muscle control of voluntary movements, such as walking, eye movements, swallowing, or picking up objects. It can affect people of all ages. Complications can be serious, often debilitating, and some types of ataxias can shorten the patient’s life. 

Persistent ataxia usually results from brain damage to the cerebellum, the part of the brain that controls and coordinates muscles. Over time, muscles become increasingly less responsive to messages from the brain, causing balance and coordination to worsen.

Hereditary ataxia is caused by inheriting a defective gene from one’s parent(s). Acquired ataxia symptoms are due to an external cause - something that happens to a person, such as an injury, stroke, alcohol abuse, cerebral palsy or multiple sclerosis. 

There is no cure for ataxia, and treatment depends on the cause. Adaptive devices can help with mobility, medications help control symptoms, and physical or speech therapy often helps the patient maintain independence and improves their quality of life.

Causes

What causes ataxia?

The term ataxia describes disease symptoms as well as a group of degenerative diseases of the central nervous system. Types of ataxias include hereditary, acquired and sporadic. 

Hereditary ataxias, caused by a gene mutation (change), are inherited from one or both parents. Defective genes make abnormal proteins that cause nerve cells to degenerate and become unable to receive messages from the brain. Symptom development may take years, beginning in childhood or after the patient is an adult. The severity of the disability depends on the type of ataxia and the patient’s age when symptoms first develop. 

Hereditary ataxias include: 

  • Friedreich's ataxia damages the cerebellum, spinal cord and the peripheral nerves that carry messages from the brain and spinal cord to the muscles. Symptoms usually develop before age 25. Muscles weaken and waste away, causing deformities of the feet, lower legs or hands. As the disease progresses, problems develop with speech, hearing, eye movements, fatigue, spinal curvature, and heart disease.
  • Ataxia-telangiectasia is a rare childhood disease causing brain degeneration, immune system breakdown, infections, tumors and delayed motor skill development. These children are susceptible to developing cancer and rarely live beyond age 30.
  • Congenital cerebellar ataxia results from cerebellum damage that's present at birth.
  • Wilson’s disease patients accumulate copper in their brains and other organs. The copper causes neurological problems but an early diagnosis can slow its progression. 
  • Mitochondrial ataxia is rare. Damage to the cerebellum develops early and causes epilepsy, headache, and speech and eye problems, neuropathy, intellectual disability and movement disorders.

Acquired ataxias usually begin in adulthood, can happen suddenly or develop slowly, and are due to an external cause that happened during the patient’s life. Causes of sudden onset ataxias are varied and include head injuries, stroke, infections, certain cancers and many other causes. These cause damage to the spinal cord or nerves that connect the brain to muscles. Acquired ataxias that develop slowly can be caused by hypothyroidism, alcohol abuse, a vitamin deficiency, chronic exposure to certain drugs, multiple sclerosis and other disorders. 

Acquired ataxias include:

  • Autoimmune diseases, including multiple sclerosis, sarcoidosis, celiac disease and others.
  • Brain abnormalities, such as an abscess (infection), or cancerous or noncancerous growth in the brain, can damage the cerebellum.
  • Cerebral palsy, which can damage a child's brain during early development, affects the ability to coordinate movement. 
  • COVID-19 infection can cause ataxia in severe cases.
  • Head trauma, due to a fall or auto accident, can damage the brain or spinal cord. 
  • Infections, ranging from chickenpox to Lyme disease and HIV, can cause short-term ataxia that usually goes away in several weeks to. 
  • Paraneoplastic syndromes are rare degenerative disorders, triggered by the immune system's response to a cancerous tumor. They can appear months or years before the cancer is diagnosed. 
  • Stroke, from either a blockage or bleeding in the brain, causes an interruption of blood to the brain. Brain cells die when deprived of oxygen and nutrients. 
  • Thyroid problems - either hypothyroidism or hypoparathyroidism - can cause ataxia.
  • Toxic reactions to a medication can cause symptoms, especially barbiturates, sedatives, drugs for epilepsy, vitamin B-6 overdose, and some types of chemotherapy. Toxicity can also be caused by alcohol or drug overdose, heavy metal poisoning (lead or mercury), or solvents such as paint thinner.
  • Vitamin deficiency, of vitamins E, B-12 or thiamine, can be due to not getting enough vitamins, not being able to absorb vitamins, or from alcohol abuse.

Sporadic ataxia can be very difficult to diagnose. Other types of ataxias must be ruled out before sporadic ataxia can be accurately diagnosed. There is no known cause, and it is not hereditary. It is neurodegenerative, meaning nerve cells in the cerebellum gradually disappear over time. One type of sporadic ataxia affects only the cerebellum. The other type of sporadic ataxia has additional symptoms, including dementia, neuropathy, weakness, rigidity or spasticity of the muscles. 

In some patients, sporadic ataxia progresses to multiple system atrophy, which affects the autonomic nervous system that controls blood pressure, digestion, bladder and bowels, and sweating.

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Symptoms

What are the symptoms of ataxia?

Symptoms vary widely among patients, and differ according to the type of ataxia. The diseases’ rate of progression also varies. Symptoms can develop slowly over many years, or happen quickly within a few months. Many of ataxia’s symptoms mimic those of being drunk - slurred speech, stumbling and lack of coordination.

Some of the most common symptoms include:

  • Balance and coordination are affected first
  • Poor coordination and control of hands, fingers, arms, legs, and eyes
  • Difficulty writing, eating and swallowing
  • Slurred or unclear speech
  • Walking difficulty, stumbling, or walking with feet widely spaced apart
  • Slow eye movement
  • Loss of fine motor skills
  • Tremors
  • Heart problems

Less common symptoms can include:

  • Dizziness
  • Rigid or spastic muscles
  • Pain
  • Fatigue
  • Low blood pressure while sitting or standing
  • Bladder or bowel dysfunction
  • Sexual dysfunction

Symptoms of severe ataxia may include:

  • Breathing difficulty
  • Frequent falls with injuries
  • Choking that can cause death
  • Pressure sores, infections and blood clots can develop in patients who are bed-bound or confined to a wheelchair 
  • Dementia, depression and behavior problems are not uncommon

Diagnosis

How is ataxia diagnosed?

Your primary care doctor may refer you to a neurologist because ataxia is a rare disease. Many doctors are not familiar with it. A neurologist can make a diagnosis and determine the type of ataxia. Sporadic ataxia is difficult to diagnose, requiring all other forms of ataxia to be ruled out before it can be accurately diagnosed. 

A neurologist will use these tools to confirm a diagnosis and identify a treatable cause of ataxia symptoms:

  • A physical exam including your medical history 
  • Neurological tests are used to check your memory and concentration, vision and hearing, balance, coordination and reflexes. 
  • Laboratory tests may be ordered, including:
    • Blood and urine tests can rule out other conditions.
    • Imaging studies (CT and MRI) of the brain may show shrinkage of the cerebellum, or a tumor or blood clot that could be pressing on the cerebellum. 
    • Spinal tap removes cerebrospinal fluid to be tested. This fluid surrounds and protects your brain and spinal cord.
    • Genetic testing can determine if you or your child has a gene mutation that causes one of the hereditary ataxia diseases. 

The neurologist will need to know what medications you are taking, and your family’s medical conditions. It is very important to tell your neurologist when you first noticed symptoms, how they have changed over time, and what makes them better or worse.

Treatment

Are there treatments for ataxia?

There is no cure for hereditary ataxia, and no medicine can treat the specific symptom of ataxia. If ataxia results from chickenpox or other viral infections, it usually resolves on its own. 

The goal of treatment is to improve quality of life and this treatment must be carefully individualized to the patient’s needs and remaining abilities. It’s important to work with your neurologist to develop a treatment plan to address symptoms. 

Treatment options may include:

  • Resolving the treatable condition that’s causing acquired ataxia. For example, a vitamin deficiency is treated by adding a specific vitamin supplement. Toxic drug exposure is treated by removing the drug.
  • Adaptive devices can provide help with coordination and balance, such as a cane, crutches, walker, wheelchair, or modified eating utensils. A continuous positive airway pressure device (CPAP), tracheostomy or feeding tube can help with eating and breathing. 
  • Therapy - physical, speech or occupational - can help with speech issues, mobility, coordination, stiffness or loss of fine motor skills. It’s important for ataxia patients to stay physically active for as long as possible. Ask your neurologist about specific activities and exercises that can help you maintain strength, balance and coordination. 
  • Medications can help with secondary symptoms such as balance and coordination issues, depression or fatigue, dizziness or vertigo, muscle cramps and spasms, neuropathy, sleeping problems, stiffness and spasticity, or tremor.

References

Mayo Clinic. (June 2020). Ataxia. Retrieved 10-25-21, {https://www.mayoclinic.org/diseases-conditions/ataxia/symptoms-causes/syc-20355652}
Mayo Clinic. (June 2020). Ataxia, Diagnosis and Treatment. Retrieved 10-25-21, {https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655}
National Ataxia Foundation. (N.d.) What is Ataxia? Retrieved 10-25-21, {https://www.ataxia.org/what-is-ataxia/}
Johns Hopkins. (N.d.) Ataxia. Retrieved 10-25-21, {https://www.hopkinsmedicine.org/health/conditions-and-diseases/ataxia}

Information

Medically reviewed by:

Dr. Desiree Levyim

Dr. Desiree Levyim is a board eligible neurologist in practice since 2020. She joins TeleMed2U in our mission to provide increased access to healthcare.

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