How Is Ataxia Diagnosed?
DiagnosisMany hereditary types of ataxias can be identified with genetic testing. To rule out other disorders causing neurologic symptoms, other forms of testing may be used, including blood and urine tests, X-rays, and magnetic resonance imaging (MRI).
- Blood tests can determine whether the cause of ataxia is treatable and if vitamin deficiencies or toxins are the reason for the ataxia.
- Urine tests are used to screen for mercury exposure.
- Brain imaging tests will include an MRI or a computed tomography (CT) scan. An MRI can show shrinkage of the cerebellum or other areas of the brain; it can also detect blood clots or benign tumors.
- Lumbar puncture (spinal tap) is to be helpful in testing for certain ataxias. A needle is inserted into the lower back, called the lumbar region, and a small sample of cerebrospinal fluid, which protects your spinal cord and brain, is extracted from the area between two lumbar bones (vertebrae). The fluid is then sent to the laboratory for testing.
- Genetic testing can determine whether the ataxia is caused by a genetic gene mutation. Genetic testing is available for many forms of hereditary ataxia. This is done by testing the DNA in a blood sample for an abnormal gene known to cause ataxia. Genetic testing is available for Friedreich’s ataxia, ataxia telangiectasia, and most forms of spinocerebellar ataxias.
- Neuroimaging of the spinal cord. This type of MRI for the spinal cord displays detailed visualization of the spinal cord, ligaments, discs, vessels, and other soft tissue better than a CT scan or radiograph.
- Electrophysiologic testing (electromyography and nerve conduction velocity testing) (EMG). This type of test is done when signs of peripheral nerve dysfunction are present. This test compares the electrical signals of your muscles while at rest and when in use. It measures how well the course of electrical signals travels down your nerves.
How Is Ataxia Treated?
TreatmentThere is no cure for ataxia. The treatment for ataxia is often related to its cause. For example, if a metabolic disorder causes ataxia, doctors will treat that disorder with specific medications and a controlled diet. Ataxias caused by a vitamin deficiency, stroke, or exposure to a toxin are sometimes treatable as well.
Other ataxia treatments focus on relieving symptoms and may include medications to treat tremors, anxiety, uncoordinated gait, and swallowing difficulties.
Dietary changes
Ataxia patients may benefit from avoiding foods sweetened with high fructose corn syrup, sugar, and artificial sweeteners. Limiting cakes, cookies, white flour, and fruit juice is suggested.
Medication
Episodic ataxia can be controlled with a medication called acetazolamide and by avoiding alcohol and caffeine. In addition, avoiding triggers such as stress may help reduce the symptoms of ataxia. Acquired ataxia may be treatable if an antibiotic or antiviral medication is effective in treating the cause of the ataxia, such as an infection.
Rehabilitation
Physical, occupational, speech, swallowing, and nutritional therapy can all help patients with ataxia maintain self-sufficiency and independence for as long as possible. Rehabilitation experts at NewYork-Presbyterian are available to:
- Evaluate muscle strength and motor skills and develop an individualized program to maintain existing physical function.
- Recommend supportive devices (including neck supports, canes, walkers, and wheelchairs); devices to assist with writing, eating, and self-care; and communication devices for those with impaired speech.
- Discuss ways to modify activities, conserve energy, and simplify work.
- Provide voice exercises to help with speech.
- Evaluate swallowing function and teach safe swallowing techniques.
Research and Clinical Trials
Investigators at both NewYork-Presbyterian Hospital campuses are conducting extensive science and clinical research to learn more about the causes of this condition and find new, more effective ways to diagnose and treat ataxia. Ask one of our neurology team members if you may be able to be part of a clinical trial.
Trust NewYork-Presbyterian for Ataxia Treatment
NewYork-Presbyterian is home to some of the world’s most renowned neurologists and neurosurgeons. Our physicians understand that dealing with ataxia is not just a concern for the patient, but that their families and loved ones are also affected. The compassionate neurological health care professionals at NewYork-Presbyterian are constantly searching for innovative ways to improve the lives of our patients with ataxia.