In suspected cases of Friedreich’s ataxia, a detailed medical evaluation is performed to assess the patient and rule out other conditions with similar symptoms. Usually, the treatment of this condition involves a multidisciplinary team of healthcare professionals which may include a neurologist, radiologist, surgeon, nurse, speech and language therapist, physiotherapist, cardiologist, ophthalmologist, orthopedic surgeon, urologist, endocrinologist, counsellor and a nutritionist or dietician.
Friedreich’s ataxia is caused by mutation in the FXN gene. This gene, which is present on chromosome 9, codes for the protein frataxin. Frataxin is an iron-binding protein required for the normal function of mitochondria, in particular for removing iron from the cytoplasm surrounding the mitochondria. When this protein is low or absent due to the defective gene, mitochondrial iron overload occurs which causes oxidative damage to cells. The nerve and muscle cells are the primary cells affected.
Detailed tests are applied to look for abnormalities in the brain and spinal cord and rule out various other conditions, some of which include malnourishment, severe infection, herniated intervertebral disc in the neck, stroke, brain tumor and multiple sclerosis. As part of the assessment, imaging studies such as a computed tomography (CT) scan and magnetic resonance imaging (MRI) scan may be performed. An EMG (electromyography) may be carried out to examine the electrical activity of the muscles and nerves. Blood, urine and spinal fluid may also be analyzed. Finally, a diagnosis of Friedreich’s anemia may be confirmed using genetic testing to detect mutations in the FXN gene.
Diagnosis is often followed by family counselling and genetic testing to establish whether any family members of the patients are in fact carriers of the condition.
Some examples of how the problems associated with Friedreich’s ataxia are managed include: