Although this sign does not always appear with every single person, and usually will not be present at the first signs of this disease, small red blood vessels that will look ‘spidery’ in their appearance will begin to appear on the person’s cheeks, the ears, and in the corners of the individual’s eyes. This is one of the main ataxia-telangiectasia symptoms that characterize this particular disease.

Another name that many people are more familiar with, and commonly refer to this disease is A-T. Sadly, there is as many as 20% of all individuals that have acquired this disease that will end up developing some form of cancer, which is often the form of cancer that is known as lymphoma or acute lymphocytic leukemia.

Common Problems That This Disease Often Causes

A majority of individuals with this type of disease suffer from an immune system that becomes very weak. This is a problem that generally complicates their condition because it will make the person more susceptible to having recurring problems with infections of the respiratory system. Some of the other problems that this type of disease is known for causing would include sexual and physical development that is delayed, mild diabetes mellitus, problems in swallowing, and the hair becoming prematurely. Child that suffer from ataxia-telangiectasia symptoms often will have an intelligence level that is considered to be of normal levels, or at levels that are higher than normal.

Some of the Most Common Warning Signs and Symptoms

• Difficulty walking

• Problems with balance

• Problems with swallowing

• Speech that is slurred

• Suppression of the immune system

• Problems with muscle control (ataxia)

• Infections of the respiratory system that are recurring

• Pneumonia that is recurrent

• Clumsiness

• The eyes having enlarged blood vessels that are clustered

• The skin having enlarged blood vessels that are clustered

• More susceptible to lung infections that are chronic

• Mucous membranes that are inflamed

• Poor posture that is stooped

• Deterioration that is progressive

• The mental development begins to decrease or stop approximately at age 10 to age 12

• As the disease progresses the individual will display eye movements that are abnormal and jerky

There are also numerous other ataxia-telangiectasia symptoms that individuals with this type of disease will often experience.

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.

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,

Ataxia Telangiectasia Symptoms

• As the person ages reddish spots known as telangiectasias emerge on the skin and eyes due to dilatation of the fine blood vessels (capillaries).
• Individuals having A-T additionally have a depleted immune system and are more susceptible to contracting infections.
• Additionally, such individuals seem to especially show sensitivity to ionizing radiation (X-ray) and are at a heightened risk of developing cancer.

Ataxia Telangiectasia Causes

• A-T is an inherent condition. The gene linked with A-T is ATM, the mutations or transformations on this gene lead to A-T.

Pattern of Inheritance

Generally, each cell owns duo reproductions of every gene – inheriting one from the maternal side and one being from the father’s side. A-T pursues an autosomal recessive inheritance precedent wherein there essentially should be the presence of mutation in both replicas of the gene for the condition to develop in an individual. Thus for a child to develop this condition both the parents would be passing on a gene transformation to the next generation. An individual having just a single replica of the gene mutation is known as a carrier. When the mother and father are each carriers then there is a twenty-five percent likelihood of the child inheriting 2 mutations and developing the condition.

Prevalence

A-T is atypically found and estimates of 1 among forty thousand to 1 among one lakh people are affected due to this condition. The likelihood of an individual being a carrier of a lone ATM gene mutation is nearly one percent or 1 among one hundred.

Queries to be put forth to the Doctor

In case one has rising concerns regarding the risk of developing cancer, then it is imperative to seek medical opinion on the same. Considering the below mentioned queries to be put forth to one’s doctor.

• What are my chances of getting cancer?
• What could be done from my end to lower the likelihood of developing cancer?
• What are the available choices in case of getting screened for cancer?

In case one is apprehensive regarding the family history and feel that one’s family could be having A-T, then considering putting forth the following queries:

• Would the presence of my family’s history of A-T augment my chances of getting cancer?
• Would my family be having A-T?
• Must I undergo genetic counselling sessions?