How do i get a test for friedreichs ataxia?

Dear Ask The Doctor: I was just wondering how i go about getting a test done for friedreichs ataxia, as my mum and her brother have it and latley ive been getting alot of pains in my chest, sore ribs, sore back and spine and various other muscles, and my hearing is also going and im on 18. can you please help me? x

Dear Leanne: The Friedreich Ataxia (FDA) is a rare inherited disease that damages the nervous system producing movement problems. Often starts in childhood causing impaired muscle coordination, and tends to worsen with time. This is an autosomal recessive disease, meaning that to develop the symptoms you have to inherit 2 defective FXN genes: one from the father and one from the mother. If a person only has one gene will not develop symptoms and is called “carrier”. There are no special tests but a careful medical history and physical exam along with other tests like: electromyography, nerve conduction studies, echocardiogram, blood test to check elevated glucose and Vitamin E levels, also MRI and CT scans may be helpful to rule out other possible neurological conditions.