Balance difficulty, loss of proprioception, an absence of reflexes, and signs of other neurological problems are common signs from a physical examination. Diagnostic tests are made to confirm a physical examination such as electromyogram, nerve conduction studies, electrocardiogram, echocardiogram, blood tests for elevated glucose levels and vitamin E levels, and scans such as X-ray radiograph for scoliosis. MRI and CT scans of brain and spinal cord are done to rule out other neurological conditions. Finally, a genetic test is conducted to confirm. Other diagnoses might include Charcot-Marie-Tooth types 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia types 1 and 2, and other early-onset ataxias.
Friedreich's ataxia
Spinocerebellar ataxia type 6
Stratton Parker syndrome
Autosomal recessive cerebellar ataxia type 1
Spinocerebellar ataxia type-13
Sandhoff disease
Jokela type spinal muscular atrophy
Parkes Weber syndrome