Causes and Diagnosis

Causes and Diagnoses of Ataxia

Ataxia is caused by many different diseases. It is important for people with ataxia to have a thorough diagnostic evaluation by an experienced neurologist. This helps rule out treatable conditions and create a care plan to manage symptoms.

Tests that help diagnose ataxia generally include:

• Complete clinical evaluation (personal medical history, family history and neurological examination)
• Brain imaging studies (MRI)
• Blood tests

During the clinical evaluation, a physician who specializes in ataxia might detect clues, such as symptoms and physical findings. These may suggest a certain form of ataxia. The evaluation helps your care team plan the diagnostic work-up.

Brain imaging studies (such as magnetic resonance imaging or MRI) are useful when looking for brain abnormalities that are often related to some forms of ataxia, such as "shrinkage" (atrophy) of the cerebellum.

MRI can also help rule out other causes of ataxia such as stroke, tumors, MS and congenital malformations.

Blood tests help uncover some causes of ataxia, such as:

• Vitamin deficiencies
• Metabolic problems (like hypothyroidism)
• Infectious diseases (such as HIV and syphilis)

Your care team may also perform genetic tests on blood samples. They will do this if they think the cause of ataxia is genetic.

Your care team may recommend more tests, depending on your specific symptoms. These tests include:

• Electromyography (EMG) and nerve conduction studies: These assess the health of your nerves. They also help find damage to your nervous system that is sometimes associated with certain ataxias.
• Evoked potentials: These stimulate specific nerve pathways so your care team can measure your brain’s electrical activity.
• Vestibular function test and posturography: This helps your care team learn more about your balance problems
• Electroencephalography (EEG): This test detects abnormalities in your brain’s electrical activity.