Friedreich's Ataxia (FA or FRDA) is a rare hereditary and neurodegenerative disease that primarily affects young people. It is inherited in an autosomal recessive manner, meaning an individual must inherit a defective copy of the FXN gene from each parent to develop it. The symptoms of FA worsen over time and 'commonly begin between the ages of 5 and 15'. This includes ataxia (lack of coordination), weakness and muscle atrophy in the limbs, sensory dysfunction (loss of sensation), dysarthria (slurred or indistinct speech), and loss of tendon reflexes. It is the 'most common hereditary ataxia' with an autosomal recessive pattern of inheritance. The cause of FA is a genetic mutation in the FXN gene, located on chromosome 9. This mutation causes a deficiency in the production of the frataxin protein. Frataxin is essential for the proper functioning of mitochondria, the 'energy factories' of the cells. Its deficiency leads to a 'toxic accumulation of iron in the mitochondria', which generates free radicals that damage cells. 'Life expectancy is greatly affected'. Approximately '20 percent of people with Friedreich's ataxia acquire carbohydrate intolerance and 10 percent of them acquire diabetes mellitus'. Diagnosis is made through a careful clinical examination. The first symptom to appear is generally 'difficulty walking or walking ataxia', which gradually worsens and spreads to the arms and trunk. Affected individuals experience a 'progressive loss of many of the functions necessary for personal autonomy'. This degeneration affects the cerebellum and the dorsal spinal ganglia, and with them, the nerves that control the movements of the muscles. In addition, bone deformities such as scoliosis (curvature of the spine) and deformities in the feet (clawfoot) are common. FA not only affects the nervous system. The most serious complication is cardiomyopathy, which often accompanies the disease in various forms (such as hypertrophic cardiomyopathy or heart failure), being the 'most common cause of death'. The disease is also associated with extreme fatigue, immunodeficiency, and progressive loss of hearing and vision. As the disease progresses, those affected 'in a more or less short time, are forced to use a wheelchair' and progressively lose all personal autonomy. It was described by the German neurologist Nikolaus Friedreich, and is characterized by a slow but progressive deterioration of coordination, posture, and other neurological functions essential for personal autonomy. Tests that can be performed to confirm the presence of FA include genetic tests to identify the mutation, as well as Electromyogram (EMG) and Nerve Conduction Studies. To evaluate organic complications, Electrocardiogram (ECG) and Echocardiogram are used, as well as imaging scans such as Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) of the brain and spinal cord.
