What is Friedreich's Ataxia?

FA is a condition that slowly degenerates the nerves carrying signals between the brain and the muscles. It was first described in the 1860's. In 1975, the Muscular Dystrophy Association took it up as a disease in its program. In 1996, scientists discovered the gene for FA. Initial symptoms of FA include exactly what Linda is experiencing. As time goes by, the symptoms will likely worsen to the point that a cane is necessary, and then a walker, and then a wheelchair. Speech can become incoherent. Other effects can include scoliosis, heart disease, foot deformities, and diabetes, among other things. The rate at which these problems develop and progress is not certain. About 6,000 people have it in the US. In most cases, FA is first seen in children, before the age of twenty. In rare cases, "Late Onset" Friedreich's Ataxia occurs.

How do you get it?

FA is an autosomal recessive disease. About 1 in 100 people are carriers; about 1 in 50,000 people have the disease. FA is due to defects in a gene on chromosome 9 that is responsible for a protein called frataxin. The defects keep the affected cells from making a normal amount of frataxin. Everyone has two copies of the frataxin gene, one inherited from each parent. A person with one defective gene is a carrier, who can then pass it on to his/her children. A person who inherits two defective frataxin genes (one from each parent) will develop FA. So if the two parents are both carriers, there is a 25% chance that the child will develop FA. There's another 50% chance that the child will be a carrier.

What exactly is wrong with the gene?

The specific defect in the gene is a "triplet repeat." This is where the section of DNA is repeated over and over again, from as many as 100 to more than 1,000 times. It is this extra genetic material that interferes with the normal production of frataxin. A person without FA may have a few dozen repeats - that's normal. Anything more than about 35 repeats is a result of FA. Of course each person has two of these chromosomes, each with a certain number of repeats. A normal person would have both chromosomes with a small number of repeats. A carrier would have one chromosome with a large number of repeats. Someone with FA would have both chromosomes with a large number of repeats.

How is it cured?

There is presently no cure for FA. The only treatment involves dealing with the effects and monitoring certain conditions to be sure they don't become life-threatening (i.e., diabetes, heart disease).

How bad is it?

It's difficult to say. It depends on the severity. It usually first occurs in children, who may live another 30 years after symptoms first appear, although life expectancy is getting better as researchers learn more. With late onset FA, the progression of the disease may be slower, although that's not clear.

Where can I find out more?

There are many websites that have information about the disease. Here are a few sites that may be of help: