How is Friedreich's ataxia diagnosed?
Diagnosis of Friedreich's ataxia involves a careful medical history and thorough neurological exam. Lab tests include electromyography, an electrical test of muscle, and a nerve conduction velocity test. An electrocardiogram may be performed to diagnose heart arrhythmia.
Direct DNA testing is available, allowing FA to be more easily distinguished from other types of ataxia. The same test may be used to determine the presence of the genetic defect in unaffected individuals, such as siblings.