Causes and Diagnosis

Causes and Diagnoses of Ataxia

Ataxia can be brought about by many different diseases. It is therefore important that ataxic patients undergo a thorough diagnostic evaluation planned by an experienced neurologist to rule out treatable conditions and institute an appropriate management plan.

Diagnostic tests generally include:

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

During the clinical evaluation, a doctor who specializes in ataxia might detect clues, such as symptoms and physical findings, that are suggestive of a particular form of ataxia and plan the subsequent diagnostic work-up accordingly.

Brain imaging studies (such as Magnetic Resonance Imaging or MRI) are very useful to look for brain abnormalities that are common to some forms of ataxia such as “shrinkage” (atrophy) of the cerebellum. MRI can also help to rule out other causes of ataxia such as stroke, tumors, multiple sclerosis and congenital malformations.

Blood tests are important to uncover some causes of ataxia such as vitamin deficiencies, metabolic problems (hypothyroidism and others), and infectious diseases (i.e. HIV and syphilis). Genetic tests may also be performed on blood samples if a genetic cause of ataxia is suspected.

Additional tests might be recommended, depending on the individual presentation. These tests include:

  • Electromyography (EMG) and nerve conduction studies, to assess the health of the nerves and detect potential neuropathies that can be associated with a subset of ataxias
  • Evoked potentials, to measure the electrical activity of the brain in response to stimulation of specific sensory nerve pathways
  • Vestibular function test and posturography, to extensively investigate balance problems
  • Electroencephalography (EEG), to detect abnormalities in the electrical activity of the brain

Diagnostic Tests

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