What is spinocerebellar degeneration?

spinocerebellar degeneration or Friedreich ataxia is a degenerative genetic disorder. It damages the nerves that send messages from the spinal cord and brain to the rest of the body. Disabled people have difficulty walking and speaking. The disease is progressive and can eventually lead to death.

Friedreich's ataxia is caused by a defective gene on Chromosome 9. This gene, called phrataxine, causes the body to make too many copies of DNA called GAA. The more the body repeats this DNA sequence, the earlier the patient begins to develop symptoms. Mitochondria is part of a cell that produces energy for the body. In a healthy body, the protein of phrataxine helps to assemble sulfur and iron clusters that mitochondria must be able to produce energy. People who have spinocerebellar degeneration do not have the necessary amount of phrataxin, so their cells cannot produce the amount of energy that the body needs to function normally.

mitochondria does not use iron as it should, so in the body accumulates excess iron. Iron reacts with oxygen to form irregular and dangerous molecules called free radicals. These molecules destroy healthy cells in muscles and nerves. These cells cannot be replaced after they have been destroyed.

spinocerebellar degeneration usually affects children aged 5 to 15 years and is most common in people of European or indo -European origin. Boys and girls are hit by the same rate. It is an autosomal recessive disorder, which means that patients who develop disease get a gene from their mother and father.

The earliest symptom of Friedreich's ataxia is the weakness in the muscles. Patients have problems with balance and walking and their lack of coordination gradually withsens. Other symptoms include hearing loss and vision changes, speech irregularities, scoliosis, foot disorders, diabetes and heart disease leading to heart failure. Doctors diagnose spinocerebellar degeneration by performing different testsThe ones, including genetic tests, muscle biopsy, X -rays and electrophysiological tests.

Since the beginning of 2011, there has not been a treatment or prevention. Caps that have a family history of spinocerebellar degeneration should consult a genetic advisor to evaluate the risk of handing over the disorder to their offspring.