Ataxia telangiectasia is one of those rarest of the rare diseases caused by an anomaly in the genetic coding of a human. It creates deformities in the control center of the brain, the cerebellum causing major disabilities in the body. This ailment is also known as Louis-Bar syndrome or Boder-Sedgwick syndrome. It makes a serious dent in the immune power of the person, making him vulnerable to frequent infections. In many cases this makes the victim vulnerable to cancer and other respiratory system infections.
Ataxia telangiectasia is caused by sequence disruption in the gene named ATM (Ataxia telangiectasia mutated). It is an autosomal (relating to one of the 23 chromosomes other than the sex chromosome) recessive disease which means that it will not affect the body unless it has twin copies of the recessive genetic anomaly. Therefore if both the parents carry one copy of the gene, they themselves won't be affected by it, but they will be carriers.
All traits in the human body are expressions of genes. Every trait has a dominant and recessive factor in the genes. The gene causing ataxia telangiectasia being autosomal recessive, there is a chance that one out of four children of carrier parents, with varying combinations of the dominant and recessive genetic anomalies, may carry this disease. The unfortunate one that will be affected by it will be the one with double copy of the recessive factor on the gene.
This disease has had cases all over the world in all races and it's probable that 1 person in 100,000 will be affected by it. Also it has an equal probability of striking in males as well as females.
Ataxia is an inability to control voluntary movements of muscles causing clumsiness in gait and other simple muscular functions. Telangiectasia is the expansion of branching arteries and blood vessels, very close to the skin surface which occurs in some specific parts of the body. They are the prime features of this disease.
Symptoms
Ataxia telangiectasia becomes discernible when children usually make their first attempts at locomotion. Difficulty in making simple body movements like turning the head, moving around, etc. becomes difficult. The disease progresses slowly but steadily. In the next 2 - 5 years, due to normal development of neural connections, the children do make improvements in body movements, but they also develop a typical way of walking. In general the affected children take more time than required to develop the basic locomotion skills.
However, from then on, in the next 5 - 6 years, the disease accelerates in its development and by the age of ten or eleven, the children have to take help of a wheelchair for locomotion as maintaining balance in walking becomes difficult. Ataxia makes it difficult for patients to make controlled eye movements as well. Slurred speech patterns are also a feature. Oculocutaneous telangiectasia occurs, which is expansion of blood vessels in the eye and skin causing red blotches. They are the definitive indicators of ataxia telangiectasia setting in.
Choreoathetosis, that is sudden unintended involuntary jerky and squirmy movements of both the hands and feet is also seen as a symptom. It occurs due to progression of disease and is seen in older patients.
Mental retardation has also been reported in some cases but not all. Most of them possess average mental abilities and complete some amount of education in their lives if the disease progression is slow. The children look much older than their age as a result of muscle wastage.
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Ataxia Telangiectasia Syndrome : Symptoms and Treatment - Buzzle