Friedreich ataxia is a rare inherited disease that damages nervous system and restricts movement. The spinal cord and peripheral nerves gradually degenerates, becoming thinner. The cerebellum also degenerates resulting in awkward and unsteady movements. The early symptoms are difficulty in walking and then the ataxia gradually spreads to the arms and trunk. Other symptoms include chest pain, breathing difficulty and heart palpitations. Hearing and vision loss develops at an advanced stage of Friedreich's ataxia.
HOW IS FRIEDREICH ATAXIA DIAGNOSED?
Friedreich's ataxia is caused by a defect in a gene called FXN.