Ataxia telangiectasia is defined by increasingly-impaired coordination of voluntary motions (ataxia).
The disease is also characterized by the growth of reddish wounds of the skin surface and mucous membranes because of permanent broadening of groups of vessels (telangiectasia), and hindered performance of the immune system (for example, cellular and humeral immunodeficiency). This eventually leads to enhanced susceptibility to upper and lower respiratory infections (sinopulmonary problems).
People who have ataxia telangiectasia also suffer from an elevated risk of acquiring specific malignancies, especially of the lymphatic system (lymphomas), the blood-forming organs (for instance, leukemia), and the central nervous system.
In those who have ataxia telangiectasia, advanced ataxia typically builds up at the time of babyhood and can at first be defined by irregular swaying of the head, neck and torso. As the disorder progresses, the symptoms result in an inability to run or walk (ambulation problems) by late childhood or teenage years.
Characteristics of Ataxia Telangiectasia
Ataxia is occasionally associated with trouble talking (dysarthria), salivating, and a hampered ability to control specific eye movements (oculomotor apraxia), involving the occurrence of involuntary, speedy, rhythmic movements (oscillations) of the eyeballs when trying to center on specific targets (fixation nystagmus).
Affected babies could also acquire an rare "stooped" stance as well as atypical, speedy, jerky motions that may take place in connection with comparatively slow, writhing movements (choreoathetosis).
Furthermore, telangiectasias may arise during mid-childhood, frequently coming out on sun-exposed regions of the skin surface like the bridge of the nose, the ears, and specific areas of the arms and legs, and the mucous membranes of the eyeballs (conjunctiva).
Ataxia telangiectasia is transmitted as an autosomal recessive trait. The condition is induced by alterations (mutations) of a gene called ATM (for "AT mutated") that has been linked to the long part (q part) of chromosome eleven (11q22). The ATM gene regulates (encodes for) the creation of an enzyme that plays a part in controlling cellular division after DNA damage.
Diagnosis of Ataxia Telangiectasia
Giving a diagnosis for AT (ataxia telangiectasia) is hardest in really young patients, mainly since the matured syndrome is not yet evident. As of 2004, AT diagnosing is generally supported by the distinct clinical findings and affirmed by laboratory screenings that point to a shortcoming of DNA (genes and chromosomes) and to an inability to fix certain kinds of damage to DNA.
Laboratory tests are useful but not as significant as the individual person's signs and symptoms, family history, and thorough neurological evaluation involving a MRI (magnetic resonance imaging) scan of the central nervous system. The cerebellar wastings (shrinking, weakening and loss of muscle) early on in the disorder get visibly smaller on MRI testing after 7 or 8 years of age.
Diagnosis is harder once the condition has fully developed, once the affected baby is now on his or her feet. The hardest time to name AT is if neurologic signs start to form (infancy) and the typical telangiectasias have not yet come about.
At this time, a history of recurrent problems and distinctive immunologic features may indicate the diagnosis.
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References:
Kenneth Opeskin J. Waterston, A. Nirenberg and W. S. C. Hare. (1998). Ataxia telangiectasia with long survival." Journal of Clinical Neuroscience. (5); 4: 471-473. October.
H. G. Dunn, H. Meuwissen, C. S. Livingstone, and K. K. Pump. (1964). "Ataxia telangiectasia." Canadian Medical Association Journal. 91; (21): 1106–1 18. November 21.
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