How is Friedreich's ataxia diagnosed?

Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Tests that may be performed include:

• electromyogram (EMG), which measures the electrical activity of muscle cells,
• nerve conduction studies, which measure the speed with which nerves transmit impulses,
• electrocardiogram (EKG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
• echocardiogram, which records the position and motion of the heart muscle,
• magnetic resonance imaging (MRI) or computed tomography (CT) scan, which provides a picture of the brain and spinal cord,
• spinal tap to evaluate the cerebrospinal fluid,
• blood and urine tests to check for elevated glucose levels, and