What is the Condition Known as Ataxia-Telangiectasia?

Ataxia-Telangiectasia is a disease that many individuals inherit from their parents, and it is commonly known by a large number of people as A-T. Some other names that this type of disease is commonly referred to would include Louis-Bar syndrome and the Boder-Sedgwick syndrome. This neurodegenerative disease is very rare and it has the ability to affect several different parts of an individual’s body. When a person has acquired A-T, it generally causes them to suffer from severe disability problems. Ataxia is a word that describes the poor coordination that this type of disease can cause, and telangiectasia is a word that refers to the second hallmark of this disease, which are blood vessels that are tiny and dilated.

In as many as 70% of the individuals that have acquired A-T, the immune system of the body becomes severely weakened, which is a problem that will often lead to a higher chance in suffering from cancer, as well as suffering from disorders of the respiratory system. Ataxia-Telangiectasia is a disease that affects the body’s cerebellum, which is the control center in a person’s body that coordinates motor control.

When is This Condition First Noticed?

Generally the parents or family of a child will first begin to notice signs of speech that is slurred, a lack of balance, and the occurrence of frequent infections during the stage when a child is still a toddler. Since this is also the time of a child’s life that they are normally learning how to walk, learning how to begin speaking coherently, and when their immune system is beginning to strengthen, in many cases A-T is not noticed until several years later.

What are the Classifications of This Disease?

At this point, studies and research has shown there to be three different classifications of Ataxia-Telangiectasia.

• Pure A-T
  This is when the patient displays having most or all of the symptoms of the disease.

• Attenuated A-T
  This is when the patient does not display a majority of the symptoms of the disease.

• Carrier A-T
  This is when the patient shows to have only one ATM mutation, which can cause a higher risk of acquiring cancer.

Types of Classifications of Ataxia-Telangiectasia that are sometimes used

• Type I
  The classic form of the syndrome that has each of the manifestations.

• Type II
  A form of the syndrome that does show radio-sensitivity, but it lacks some of the findings that are typically found.

• Type III
  A form of the syndrome that is not radio-sensitive, but it does have the classic clinical findings.

• Type IV
  A form of the syndrome that is not radio-sensitive and only has some of the features present.

If you have noticed that your toddler seems to be showing some of the symptoms of this type of disease, it is important to set up an appointment with a professional specialist that has a thorough knowledge of the signs and symptoms of Ataxia-Telangiectasia so a proper diagnosis can be given.

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