Ataxia Telangiectasia: Treatment, Procedure, Cost and Side Effects
Last Updated: Nov 01, 2019
What is Ataxia Telangiectasia?
Ataxia Telangiectasia is a rare autosomal recessive disorder that appears in a child and causes severe disability. This is a genetic disorder whereby the child inherits a pair of mutated genes, each from both the parents. The ATM protein kinase (an enzyme that modifies proenzymes, thereby making them active), the disorder of which causes Ataxia Telangiectasia syndrome, is a key cellular protein that induces DNA repair in the case of a breakage. However when the ATM gene (which produces the ATM protein kinase) is disoriented, DNA repair is prevented, thereby making the carrier prone to immune system failure, neurological disorders, cancer (especially leukemia) beside other associated disabilities including skin diseases, lung diseases, bone structure failure, vision problem etc.
Ataxia refers to the lack of neurological coordination and telangiectasia refers to the widening or the dilating the blood vessels. A child ailing from this disease usually develops bloodshot eyes. Since these children suffer from a weakened immunity system long-term treatment with antibiotics is often conducted. The disease undoubtedly leaves a debilitating effect on the child as well as the parents. Therefore, prenatal diagnosis is a good measure on part of the parents. If the child is detected with this condition a geneticist should be consulted at an early stage.
How is the treatment done?
No particular treatment for Ataxia Telangiectasia is there. However, many characteristics of the disease can be combated with process therapy. For instance, a patient suffering from this disease has a weakened immunity system. This is a condition that can be treated by antibiotics. Frequent immunoglobulin injection can also help. Neurological disorders leading to poor hands and legs coordination can be warded off by Beta-adrenergic blockers. Beta-blockers reduce the effect of the adrenaline, thereby diminishing the intensity of tremors that is associated with neurological disorders.
People suffering from this disease tend to be prone to cancer. In that case, mild chemotherapy can be given based on the condition of the patient, especially those suffering from lymphoid disorders. However, the doses of alkylating agents that are used to treat cancer might need a reduction as DNAs in these patients are usually sensitive to these elements. Desferrioxamine medications that are known to bond iron and aluminum in the blood work well to rectify the defective gene. Antioxidants (the benefit of which is still under trial) can also be prescribed by doctors to deal with Ataxia Telangiectasia.
Who is eligible for the treatment?
A patient who is suffering from neurological disorders whereby he/she faces difficulties when it comes to voluntary movements can undergo treatment as this is one of the primary signs of Ataxia Telengiestacia. On being diagnosed if the person is found to be a carrier of a genetic disorder then further treatment will be provided. Apart from that the patient should be above 6 (because before that the symptoms do not get properly reflected) years and should weigh more than 15 kgs.
Who is not eligible for the treatment?
A person who suffers from immunological, neurological, autoimmune disorders owing to a different kind of ailment other than Ataxia Telengiestacia Syndrome is not eligible to go ahead with this treatment.
Are there any side effects?
Ataxia Telangiestacia is followed by failure of multiple organs and patients are often diagnosed with cancer. The most effective way to cure cancer is chemotherapy. However, patients suffering from this condition can react adversely to chemotherapy as it might cause the chromosomes to break in these patients and moreover, these patients lack the rectifying agent, namely ATM (the protein kinase).
What are the post-treatment guidelines?
People ailing from this disease require getting regular checkups done. He/she needs to be under the observation of the physician as the disease is followed by prolonged treatment.
How long does it take to recover?
There is no specific recovery time for those suffering from this illness. With treatments the life of a person can be prolonged and medical assistance needs to be continued for as long as the person lives. The adverse conditions that are associated with this syndrome can be abated but they cannot be eliminated. Even if a person gets relief from the illness with treatments, it will be of a temporary kind.
What is the price of the treatment in India?
The treatment for Ataxia Telangiestacia involves a lot of money because the treatments are multifarious. Therefore, a specific quotation cannot be provided. However, the consultation fee can be anywhere around Rs 500 and Rs 2000 based on the remuneration of the physician.
Are the results of the treatment permanent?
The results are not permanent. As soon as the action of the medications exhaust the symptoms are reiterated. Therefore, treatment cannot be discontinued. Ataxia Telegiestacia remedies exist to give life-long support to the sufferer. Treatment is provided as long as the person can accept it.
References
- Ataxia Telangiectasia- Medline Plus, NIH, U.S. National Library of Medicine [Internet]. medlineplus.gov 2019 [Cited 17 July 2019]. Available from:
- Ataxia Telangiectasia Information Page- NIH, National Institute Of Neurological Disorders and Stroke [internet]. ninds.nih.gov 2019. [Cited 17 July 2019]. Available from:
- Ataxia-telangiectasia- Genetic Home References, NIH, U.S. National Library of Medicine [Internet]. ghr.nlm.nih.gov 2019. [Cited 17 July 2019]. Available from:
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