What is the Ataxia-Telangiectasia Syndrome?

The ataxia-telangiectasia syndrome is known by a large number of specialists and medical professionals as being a disorder that can be acquired by the patient through the genetic makeup. Because of the way that this rare disorder has an effect on a person’s central control center of the patient’s brain, in a majority of the cases where individuals have this disease, it shows to compromise their immune system. The rarity of this disease is also accompanied by a complex set of a wide variety of effects and symptoms that it can have on a person’s system.

In the cases where this type of disease has been diagnosed, the patients have shown to display an abnormality that can be seen in their genetic coding. Ataxia-telangiectasia syndrome is a disease that causes the individual to suffer from deformities in the brain’s control center or cerebellum, which can cause severe disability problems in the patient. A few of the other names that this disease may be referred to would include Boder-Sedgwick syndrome or Louis-Bar syndrome. Because of the major problems that it has the ability to cause to a person’s immune system, the individual becomes very vulnerable to infections that can occur frequently, and this would also include various types of infections of the respiratory system, as well as making the patient more susceptible to acquiring cancer.

This disease is characterized by a sequence disruption or mutation that it causes to gene that is known as the ATM. It is commonly known as a autosomal recessive disease. This means the disease does not have an effect on the individual’s body, unless the recessive genetic anomaly has a twin copy. If both of a person’s parents makeup of the system contains only one copy of this gene, then the individual will be a carrier, but they will not be affected.

Each of the traits that we carry are an expression of the genes contained in our makeup, with the traits having both a recessive and a dominant factor included within the genes. When it comes to ataxia-telangiectasia syndrome, there are as many as out in four children may end up carrying the disease. This is the case if their parents are a carrier of the disease that show to have varied combinations of the recessive genetic anomalies and the dominant genes. Sadly, individuals that end up being affected by this rare disease are those that carry a twin copy that has recessive factors in the person’s genes.

Statistics have shown that only 1 in 100,000 people end up being affected by this disease, with cases that have been found in every race all around the world. It is also a disease that is found and diagnosed just as much in the population of women as it is found and diagnosed in the male population.

Ataxia-telangiectasia syndrome can be described as the following:

• Ataxia

  meaning the patient will have problems in controlling any voluntary movements of the body’s muscles which can cause even the simplest of functions to be impossible to maneuver.

• Telangiectasia

  Being the prime characteristic of this disease, expanded arteries that branch out and small blood vessels will be noticed just beneath the surface of the individual’s skin on certain parts of their body,

Popularity: 13% [?]