Ataxia Telangiectasia is also referred to as Louis Bar Syndrome and is abbreviated as A- T. This condition is a seldom recorded neurodegenerative disease. It is an inherited disorder which affects several parts of the body and may lead to serious disabilities. The word Ataxia refers to the condition of poor concentration and coordination, whereas telangiectasia refers to dilated small capillaries or vessels of blood. Both the aforementioned conditions are in fact symptoms of the disease.
Ataxia Telangiectasia has its influence on the cerebellum which is the motor coordination controller of the body as well as it degrades the immune system of affected individuals. Weakening of immune system is found in most cases as 70% of A-T cases also involved affected immune system. Patient afflicted with this disease may also suffer from respiratory issues as well as he/ she becomes more prone to cancer. As it is mentioned above that the disease is a childhood disease, it affects during early ages of life, specifically toddling phase, and may involve symptoms like balance issues, unclear speech and infection. Since, these are common aspects of children at this age, it may take some time for the disease to get diagnosed.
There are several causes of Ataxia Telangiectasia; however, the chief reason for development of this disease is said to be malfunction of ATM genes. The objective of these genes is to detect and rectify issues related to duplicate
DNA when body cells divide. It also helps by killing the cells when the errors cannot be rectified. The protein in the body usually restores DNAs breaks with dual strands.
Causes of Ataxia telangiectasia
Ataxia telangiectasia is classified as an inherited disease which means that the issue is passed on from parents to the child and may be in the blood line since several generations. This condition arises based on autosomal recessive inheritance wherein both parent should supply a defective gene for the child to be affected by Ataxia telangiectasia. If one of the parents provides a defected gene and the other does not provide defective gene then, the child born would be unaffected carrier of the ATM or Ataxia telangiectasia mutated gene. The defect in ATM gene may also cause death of cells in different parts of the body. This may also include death of cells in some parts of brain which helps in coordination of body movement; which may make the condition even severe. This disease affects individuals irrespective of the gender, which means boys and girls are equally affected.
Ataxia Telangiectasia symptoms
Like any other disease even Ataxia Telangiectasia also has some symptoms, which are as follows:
• Difficulties related to movement control or onset of cerebellar ataxia
• Ocular inability to follow a certain point in the visual field
• Eye and skin related telangiectasia
• Immune deficiency or insignificant concentration of immunoglobulin
• Instability related to chromosomes
• Ionizing radiation related hypersensitivity
• Increased level of alpha fetoprotein
• Absence of thymus shadow on x-ray imaging
• Defective embryonic growth of the gonads
• Recurring respiratory infection
Initially it may become a little difficult to determine whether a child is suffering from the disease. In some cases children may start recovering from 3 to 5 years; however, eventually it may become evident that the control on the balance is abnormal. When the child is approximately 10 years old and is about to begin the second decade of his life, other problems starts to become obvious. These symptoms may be extreme disability as the hindered balance of body. Since Ataxia telangiectasia may have incomplete influence on the patients, they may suffer from benign type of the diseases. Theses mild forms onsets later than usual and have less serious symptoms. Since this disease is amongst the rarest physical issues, some doctors may not hold expertise in curing this disorder.
Diagnosis of Ataxia telangiectasia:
The diagnosis is generally done through clinical examinations. It may include determining ataxia and skin related telangiectasia or ocular telangiectasia. Such clinical examinations may be then further confirmed through laboratory examinations to tests AFP serum level. Laboratory tests may also include checking the degree of ATM protein as well as determining the reaction of WBC or White Blood Cells to x- rays. The sufferer may indicate signs of immunological issues as well as reduced count of lymphocyte. After doing such laboratory tests, molecular examining and cytogenetic tests may be required to further confirm the results. Depiction of cerebellar atrophy may be noticed in results of MRI or Magnetic resonance imaging or CT scan or Computed Tomography scan. In both the tests MRI is preferred method for diagnosis as it does not exposes the patient to too much ionizing radiations.
Treatment for Ataxia telangiectasia:
There is not specific treatment suggested by the medical industry for curing Ataxia telangiectasia. However, there are some symptoms related and supportive management techniques for dealing with the disease. There are certain suitable physical therapies that may help in maintaining flexibility. In order to maintain speech, the patient may have to undergo speech therapy. For a patient with weakened immune system supplement- injection may be given, consisting of gamma globulin. Some patients may also have to follow regime of high dose vitamins to manage with A-T. If a person when affected by A-T as well as infection may sometimes find relied through antibiotics.
Based on the condition of the disease some surgeons may also suggest lower dosage of chemotherapy in order to reduce the chances of cancer, however the effects are uncertain. According to recent studies it is determined that deferoxamine has demonstrated significant effects by boosting A-T cell stability and is hope to serve as an efficacious medication for treatment of Ataxia Telangiectasia.
Consulting the doctor:
it is essential to consult a doctor as soon as any of the above mentioned symptoms are experienced. In case of children it is essential to take them for routine checkup, though there are less chances that this will help in determining the prevalence of the disease, it may surely help in understanding associated symptoms of ataxia telangiectasia.
Please take a few minutes to go through this video on Ataxia Telangiectasia uploaded by a mother of a child who has this disease.
