[ad_1]
Friedreich’s ataxia is a genetic disease that damages nerves, causing difficulty walking and talking. It is caused by a defective gene that produces too many copies of a DNA sequence called GAA, leading to a lack of frataxin protein and energy production. Excess iron builds up in the body, producing dangerous molecules that destroy healthy cells. There is no cure or prevention, and patients may require walking aids or treatment for associated conditions.
Spinocerebellar degeneration, or Friedreich’s ataxia, is a degenerative genetic disease. It damages the nerves that send messages from the spinal cord and brain to the rest of the body. Affected people have difficulty walking and talking. The disease is progressive and can lead to death.
Friedreich’s ataxia is caused by a defective gene on chromosome 9. This gene, called frataxin, causes the body to make too many copies of a DNA sequence called GAA. The more the body repeats this DNA sequence, the sooner the patient begins to develop symptoms.
This genetic abnormality interferes with the production of a protein also called frataxin. Mitochondria are the part of the cell that produces energy for the body. In a healthy body, the protein frataxin helps assemble sulfur and iron assemblies, which the mitochondria need to be able to produce energy. People who have spinocerebellar degeneration lack the necessary amount of frataxin, so their cells cannot produce the amount of energy the body needs to function normally.
The mitochondria don’t use iron as well as they should, so excess iron builds up in the body. Iron reacts with oxygen to produce irregular and dangerous molecules called free radicals. These molecules destroy healthy cells in muscles and nerves. These cells cannot be replaced after they are destroyed.
Spinocerebellar degeneration usually affects children between the ages of 5 and 15 and is more common in people of European or Caucasian ancestry. Boys and girls are equally affected. It is an autosomal recessive disease, which means that patients who develop the disease get the gene from both their mother and father.
The first symptom of Friedreich’s ataxia is muscle weakness. Patients have problems with balance and walking, and their lack of coordination gradually worsens. 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 doing a variety of tests, including genetic testing, muscle biopsies, X-rays, and electrophysiological tests.
There was no cure or prevention for the disease as of early 2011. Patients may eventually require braces, wheelchairs or other walking aids as the disease progresses, as well as treatment for diabetes or heart disease. Couples who both have a family history of spinocerebellar degeneration should consult a genetic counselor to assess the risk of passing the disease on to their offspring.
[ad_2]